(used for variant description)
(last modified December 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001173464.1 in the KIF21A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering KIF21A transcript NM_001173464.1.
(upstream sequence)
. . . . . . g.5060
gaggagcccggagcgccctggcgggcgtggagtccccagcctggccgctgggaggccgcg c.-361
. . . . . . g.5120
tccccaccggagggggcagggcgcactcacccggccgccctgaggccgctggcggcctgt c.-301
. . . . . . g.5180
tggcttctccacaggcgcgctcgccgttcaagcgcgctttgtccccgccccagatcctgg c.-241
. . . . . . g.5240
ggggtgagcggtggagaaggggcgggcgcccgcgagccgtgaatcacctcctcctcttgc c.-181
. . . . . . g.5300
tgcctcagcgccgccgccacctttccattcagtcgcccaacatggctggagcgcggcgga c.-121
. . . . . . g.5360
ggtgagccggccgcccgcccgcagacgccccagcctactgcgcccgagtcccgcggcccc c.-61
. . . . . . g.5420
agtggcgcctcagctctgcggtgccgaggcccaacggctcgatcgctgcccgccgccagc c.-1
. . . . | 02 . . g.78145
ATGTTGGGCGCCCCGGACGAGAGCTCCGTGCGGGTGGCTGTCAG | AATAAGACCACAGCTT c.60
M L G A P D E S S V R V A V R | I R P Q L p.20
. . . . . . g.78205
GCCAAAGAGAAGATTGAAGGATGCCATATTTGTACATCTGTCACACCAGGAGAGCCTCAG c.120
A K E K I E G C H I C T S V T P G E P Q p.40
. . . . . . g.78265
GTCTTCCTAGGGAAAGATAAGGCTTTTACTTTTGACTATGTATTTGACATTGACTCCCAG c.180
V F L G K D K A F T F D Y V F D I D S Q p.60
. . . . . . g.78325
CAAGAGCAGATCTACATTCAATGTATAGAAAAACTAATTGAAGGTTGCTTTGAAGGATAC c.240
Q E Q I Y I Q C I E K L I E G C F E G Y p.80
. . | 03. . . . g.78512
AATGCTACAGTTTTTGCTTATGGACAA | ACTGGAGCTGGTAAAACATACACAATGGGAACA c.300
N A T V F A Y G Q | T G A G K T Y T M G T p.100
. . . . . . g.78572
GGATTTGATGTTAACATTGTTGAGGAAGAACTGGGTATTATTTCTCGAGCTGTTAAACAC c.360
G F D V N I V E E E L G I I S R A V K H p.120
. . . . . . g.78632
CTTTTTAAGAGTATTGAAGAAAAAAAACACATAGCAATTAAAAATGGGCTTCCTGCTCCA c.420
L F K S I E E K K H I A I K N G L P A P p.140
. . . | 04 . . . g.80388
GATTTTAAAGTGAATGCCCAATTCTTAGAG | CTCTATAATGAAGAGGTCCTTGACTTATTT c.480
D F K V N A Q F L E | L Y N E E V L D L F p.160
. . . . . . g.80448
GATACCACTCGTGATATTGATGCAAAAAGTAAAAAATCAAATATAAGAATTCATGAAGAT c.540
D T T R D I D A K S K K S N I R I H E D p.180
. . . . . . g.80508
TCAACTGGAGGAATTTATACTGTGGGCGTTACAACACGTACTGTGAATACAGAATCAGAG c.600
S T G G I Y T V G V T T R T V N T E S E p.200
| 05 . . . . . . g.81286
| ATGATGCAGTGTTTGAAGTTGGGTGCTTTATCCCGGACAACTGCCAGTACCCAGATGAAT c.660
| M M Q C L K L G A L S R T T A S T Q M N p.220
. . . . . . g.81346
GTTCAGAGCTCTCGTTCACATGCCATTTTTACCATTCATGTGTGTCAAACCAGAGTGTGT c.720
V Q S S R S H A I F T I H V C Q T R V C p.240
. | 06 . . . . . g.81918
CCCCAAATAGATGCT | GACAATGCAACTGATAATAAAATTATTTCTGAATCAGCACAGATG c.780
P Q I D A | D N A T D N K I I S E S A Q M p.260
. . . . . . g.81978
AATGAATTTGAAACCCTGACTGCAAAGTTCCATTTTGTTGATCTCGCAGGATCTGAAAGA c.840
N E F E T L T A K F H F V D L A G S E R p.280
. . . . . . g.82038
CTGAAGCGTACTGGAGCTACAGGCGAGAGGGCAAAAGAAGGCATTTCTATCAACTGTGGA c.900
L K R T G A T G E R A K E G I S I N C G p.300
| 07 . . . . . . g.85234
CTT | TTGGCACTTGGCAATGTAATAAGTGCCTTGGGAGACAAGAGCAAGAGGGCCACACAT c.960
L | L A L G N V I S A L G D K S K R A T H p.320
. . . . . | 08 g.90018
GTCCCCTATAGAGATTCCAAGCTAACAAGACTACTACAGGATTCCCTCGGGGGTAATAG | C c.1020
V P Y R D S K L T R L L Q D S L G G N S | p.340
. . . . . . g.90078
CAAACAATCATGATAGCATGTGTCAGCCCTTCAGACAGAGACTTTATGGAAACGTTAAAC c.1080
Q T I M I A C V S P S D R D F M E T L N p.360
. . . . . . g.90138
ACCCTGAAATACGCCAATCGAGCTAGAAATATCAAGAATAAGGTGATGGTCAATCAGGAC c.1140
T L K Y A N R A R N I K N K V M V N Q D p.380
. . . . . . g.90198
AGAGCTAGTCAGCAAATCAATGCACTTCGTAGTGAAATCACACGACTTCAGATGGAGCTC c.1200
R A S Q Q I N A L R S E I T R L Q M E L p.400
. | 09 . . . . . g.90998
ATGGAGTACAAAACA | GGTAAAAGAATAATTGACGAAGAGGGTGTGGAAAGCATCAATGAC c.1260
M E Y K T | G K R I I D E E G V E S I N D p.420
. . . . . . g.91058
ATGTTTCATGAGAATGCTATGCTACAGACTGAAAATAATAACCTGCGTGTAAGAATTAAA c.1320
M F H E N A M L Q T E N N N L R V R I K p.440
. . . . . . g.91118
GCCATGCAAGAGACGGTTGATGCATTGAGGTCCAGAATTACACAGCTTGTTAGTGATCAG c.1380
A M Q E T V D A L R S R I T Q L V S D Q p.460
. . | 10 . . . . g.91530
GCCAACCATGTTCTTGCCAGAGCAG | GTGAAGGAAATGAGGAGATTAGTAATATGATTCAT c.1440
A N H V L A R A G | E G N E E I S N M I H p.480
. . | 11 . . . g.96441
AGTTATATAAAAGAAATCGAAGATCTCAG | GGCAAAATTATTAGAAAGTGAAGCAGTGAAT c.1500
S Y I K E I E D L R | A K L L E S E A V N p.500
. . . . . . g.96501
GAGAACCTTCGAAAAAACTTGACAAGAGCCACAGCAAGAGCGCCATATTTCAGCGGATCA c.1560
E N L R K N L T R A T A R A P Y F S G S p.520
. . . . . . g.96561
TCAACTTTTTCTCCTACCATACTATCCTCAGACAAAGAAACCATTGAAATTATAGACCTA c.1620
S T F S P T I L S S D K E T I E I I D L p.540
. . . . . | 12 . g.101893
GCAAAAAAAGATTTAGAGAAGTTGAAAAGAAAAGAAAAGAGGAAGAAAAAAAG | GCTACAG c.1680
A K K D L E K L K R K E K R K K K R | L Q p.560
. . . | 13 . . . g.106294
AAACTTGAGGAAAGCAATCGAGAAGAAAGAAG | TGTGGCTGGTAAAGAGGATAATACAGAC c.1740
K L E E S N R E E R S | V A G K E D N T D p.580
. . . . . . g.106354
ACTGACCAAGAGAAGAAAGAAGAAAAGGGTGTTTCGGAAAGAGAAAACAATGAATTAGAA c.1800
T D Q E K K E E K G V S E R E N N E L E p.600
| 14 . . . . . . g.106825
GTG | GAAGAAAGTCAAGAAGTGAGTGATCATGAGGATGAAGAAGAGGAGGAGGAGGAGGAG c.1860
V | E E S Q E V S D H E D E E E E E E E E p.620
. . . . . . g.106885
GAAGATGACATTGATGGGGGTGAAAGTTCTGATGAATCAGATTCTGAATCAGATGAAAAA c.1920
E D D I D G G E S S D E S D S E S D E K p.640
| 15 . . . . . . g.107355
G | CCAATTATCAAGCAGACTTGGCAAACATTACTTGTGAAATTGCAATTAAGCAAAAGCTG c.1980
A | N Y Q A D L A N I T C E I A I K Q K L p.660
. . . . . . g.107415
ATTGATGAACTAGAAAACAGCCAGAAAAGACTGCAGACTCTGAAAAAGCAGTATGAAGAG c.2040
I D E L E N S Q K R L Q T L K K Q Y E E p.680
. . . . . . g.107475
AAGCTAATGATGCTGCAACATAAAATTCGGGATACTCAGCTTGAAAGAGACCAGGTGCTT c.2100
K L M M L Q H K I R D T Q L E R D Q V L p.700
. | 16 . . . . . g.108076
CAAAACTTAG | GCTCGGTAGAATCTTACTCAGAAGAAAAAGCAAAAAAAGTTAGGTCTGAA c.2160
Q N L G | S V E S Y S E E K A K K V R S E p.720
. . . . . . g.108136
TATGAAAAGAAACTCCAAGCCATGAACAAAGAACTGCAGAGACTTCAAGCAGCTCAAAAA c.2220
Y E K K L Q A M N K E L Q R L Q A A Q K p.740
. . . . . . g.108196
GAACATGCAAGGTTGCTTAAAAATCAGTCTCAGTATGAAAAGCAATTGAAGAAATTGCAG c.2280
E H A R L L K N Q S Q Y E K Q L K K L Q p.760
. . . | 17 . . . g.111217
CAGGATGTGATGGAAATGAAAAAAACAAAG | GTTCGCCTAATGAAACAAATGAAAGAAGAA c.2340
Q D V M E M K K T K | V R L M K Q M K E E p.780
. . . . . . g.111277
CAAGAGAAAGCCAGACTGACTGAGTCTAGAAGAAACAGAGAGATTGCTCAGTTGAAAAAG c.2400
Q E K A R L T E S R R N R E I A Q L K K p.800
. | 18 . . . . g.115152
GATCAACGTAAAAGAGAT | CATCAACTTAGACTTCTGGAAGCCCAAAAAAGAAACCAAGAA c.2460
D Q R K R D | H Q L R L L E A Q K R N Q E p.820
. . | 19. . . . g.115316
GTGGTTCTACGTCGCAAAACTGAAGAG | GTTACGGCTCTTCGTCGGCAAGTAAGACCCATG c.2520
V V L R R K T E E | V T A L R R Q V R P M p.840
. . . . . . g.115376
TCAGATAAAGTGGCTGGGAAAGTTACTCGGAAGCTGAGTTCATCTGATGCACCTGCTCAG c.2580
S D K V A G K V T R K L S S S D A P A Q p.860
. . . . . . g.115436
GACACAGGTTCCAGTGCAGCTGCTGTCGAAACAGATGCATCAAGGACAGGAGCCCAGCAG c.2640
D T G S S A A A V E T D A S R T G A Q Q p.880
. . . . . . g.115496
AAAATGAGAATTCCTGTGGCGAGAGTCCAGGCCTTACCAACGCCGGCAACAAATGGAAAC c.2700
K M R I P V A R V Q A L P T P A T N G N p.900
| 20 . . . . . . g.115704
AG | GAAAAAATATCAGAGGAAAGGATTGACTGGCCGAGTGTTTATTTCCAAGACAGCTCGC c.2760
R | K K Y Q R K G L T G R V F I S K T A R p.920
. . . . . . g.115764
ATGAAGTGGCAGCTCCTTGAGCGCAGGGTCACAGACATCATCATGCAGAAGATGACCATT c.2820
M K W Q L L E R R V T D I I M Q K M T I p.940
. . . | 21 . . . g.116006
TCCAACATGGAGGCAGATATGAATAGACTCCTCAAG | CAACGGGAGGAACTCACAAAAAGA c.2880
S N M E A D M N R L L K | Q R E E L T K R p.960
. . . . . . g.116066
CGAGAGAAACTTTCAAAAAGAAGGGAGAAGATAGTCAAGGAGAATGGAGAGGGAGATAAA c.2940
R E K L S K R R E K I V K E N G E G D K p.980
. . . . . . g.116126
AATGTGGCTAATATCAATGAAGAGATGGAGTCACTGACTGCTAATATCGATTACATCAAT c.3000
N V A N I N E E M E S L T A N I D Y I N p.1000
. . . . . | 22 . g.116608
GACAGTATTTCTGATTGTCAGGCCAACATAATGCAGATGGAAGAAGCAAAG | GAAGAAGGT c.3060
D S I S D C Q A N I M Q M E E A K | E E G p.1020
. . . . . . g.116668
GAGACATTGGATGTTACTGCAGTCATTAATGCCTGCACCCTTACAGAAGCCCGATACCTG c.3120
E T L D V T A V I N A C T L T E A R Y L p.1040
. . . | 23 . . . g.117506
CTAGATCACTTCCTGTCAATGGGCATCAATAAG | GGTCTTCAGGCTGCCCAGAAAGAGGCT c.3180
L D H F L S M G I N K | G L Q A A Q K E A p.1060
. . . . . . g.117566
CAAATTAAAGTACTGGAAGGTCGACTCAAACAAACAGAAATAACCAGTGCTACCCAAAAC c.3240
Q I K V L E G R L K Q T E I T S A T Q N p.1080
. . . . . . g.117626
CAGCTCTTATTCCATATGTTGAAAGAGAAGGCAGAATTAAATCCTGAGCTAGATGCTTTA c.3300
Q L L F H M L K E K A E L N P E L D A L p.1100
. | 24 . . | 25 . . g.122086
CTAGGCCATGCTTTACAAG | ATCTAGATAGCGTACCATTAG | AAAATGTAGAGGATAGTACT c.3360
L G H A L Q D | L D S V P L E | N V E D S T p.1120
. . . . | 26 . . g.122516
GATGAGGATGCTCCTTTAAACAGCCCAGGATCAGAAGGAAG | CACGCTGTCTTCAGATCTC c.3420
D E D A P L N S P G S E G S | T L S S D L p.1140
. . . | 27 . . . g.125532
ATGAAGCTTTGTGGTGAAGTGAAACCTAAGAACAAG | GCCCGAAGGAGAACCACCACTCAG c.3480
M K L C G E V K P K N K | A R R R T T T Q p.1160
. . . . . . g.125592
ATGGAATTGCTGTATGCAGATAGCAGTGAACTAGCTTCAGACACTAGTACAGGAGATGCC c.3540
M E L L Y A D S S E L A S D T S T G D A p.1180
. . . . . . g.125652
TCCTTGCCTGGCCCTCTCACACCTGTTGCAGAAGGGCAAGAGATTGGAATGAATACAGAG c.3600
S L P G P L T P V A E G Q E I G M N T E p.1200
. . . . . . g.125712
ACAAGTGGTACTTCTGCTAGGGAAAAAGAGCTCTCTCCCCCACCTGGCTTACCTTCTAAG c.3660
T S G T S A R E K E L S P P P G L P S K p.1220
. | 28 . . . . . g.128426
ATAGGCAGCAT | TTCCAGGCAGTCATCTCTATCAGAAAAAAAAATTCCAGAGCCTTCTCCT c.3720
I G S I | S R Q S S L S E K K I P E P S P p.1240
. . . . . | 29 g.130190
GTAACAAGGAGAAAGGCATATGAGAAAGCAGAAAAATCAAAGGCCAAGGAACAAAAGCA | C c.3780
V T R R K A Y E K A E K S K A K E Q K H | p.1260
. . . . . . g.130250
TCAGATTCTGGAACTTCAGAGGCTAGTCTTTCACCTCCTTCTTCCCCACCAAGCCGGCCC c.3840
S D S G T S E A S L S P P S S P P S R P p.1280
. . . . . . g.130310
CGTAATGAACTGAATGTTTTTAATCGTCTTACTGTTTCTCAGGGAAACACATCAGTTCAG c.3900
R N E L N V F N R L T V S Q G N T S V Q p.1300
| 30 . . . | 31. | 32 g.136838
CAGGATAA | GTCTGATGAAAGTGACTCCTCTCTCTCGGAGGTACACAG | ATCCTCCAGAAG | G c.3960
Q D K | S D E S D S S L S E V H R | S S R R | p.1320
. . . . . . g.136898
GGCATAATCAACCCATTTCCTGCTTCAAAAGGAATCAGAGCTTTTCCACTTCAGTGTATT c.4020
G I I N P F P A S K G I R A F P L Q C I p.1340
. . . . . . g.136958
CACATAGCTGAAGGGCATACAAAAGCTGTGCTCTGTGTGGATTCTACTGATGATCTCCTC c.4080
H I A E G H T K A V L C V D S T D D L L p.1360
. | 33 . . . . . g.138668
TTCACTGGATCAAAAG | ATCGTACTTGTAAAGTATGGAATCTGGTGACTGGGCAGGAAATA c.4140
F T G S K D | R T C K V W N L V T G Q E I p.1380
. . . . . . g.138728
ATGTCACTGGGGGGTCATCCCAACAATGTCGTGTCTGTAAAATACTGTAATTATACCAGT c.4200
M S L G G H P N N V V S V K Y C N Y T S p.1400
. . . . . . g.138788
TTGGTCTTCACTGTATCAACATCTTATATTAAGGTGTGGGATATCAGAGATTCAGCAAAG c.4260
L V F T V S T S Y I K V W D I R D S A K p.1420
. | 34. . . . . g.140704
TGCATTCGAACACTAAC | GTCTTCAGGTCAAGTTACTCTTGGAGATGCTTGTTCTGCAAGT c.4320
C I R T L T | S S G Q V T L G D A C S A S p.1440
. . . . . . g.140764
ACCAGTCGAACAGTAGCTATTCCTTCTGGAGAGAACCAGATCAATCAAATTGCCCTAAAC c.4380
T S R T V A I P S G E N Q I N Q I A L N p.1460
. . . . . . g.140824
CCAACTGGCACCTTCCTCTATGCTGCTTCTGGAAATGCTGTCAGGATGTGGGATCTTAAA c.4440
P T G T F L Y A A S G N A V R M W D L K p.1480
| 35 . . . . . . g.143510
AG | GTTTCAGTCTACAGGAAAGTTAACAGGACACCTAGGCCCTGTTATGTGCCTTACTGTG c.4500
R | F Q S T G K L T G H L G P V M C L T V p.1500
. . . . . . g.143570
GATCAGATTTCCAGTGGACAAGATCTAATCATCACTGGCTCCAAGGATCATTACATCAAA c.4560
D Q I S S G Q D L I I T G S K D H Y I K p.1520
| 36 . . . . . . g.145315
| ATGTTTGATGTTACAGAAGGAGCTCTTGGGACTGTGAGTCCCACCCACAATTTTGAACCC c.4620
| M F D V T E G A L G T V S P T H N F E P p.1540
. . . . . . g.145375
CCTCATTATGATGGCATAGAAGCACTAACCATTCAAGGGGATAACCTATTTAGTGGGTCT c.4680
P H Y D G I E A L T I Q G D N L F S G S p.1560
. . . . . | 37 . g.146720
AGAGATAATGGAATCAAGAAATGGGACTTAACTCAAAAAGACCTTCTTCAG | CAAGTTCCA c.4740
R D N G I K K W D L T Q K D L L Q | Q V P p.1580
. . . . . . g.146780
AATGCACATAAGGATTGGGTCTGTGCCCTGGGAGTGGTGCCAGACCACCCAGTTTTGCTC c.4800
N A H K D W V C A L G V V P D H P V L L p.1600
. . . . . . g.146840
AGTGGCTGCAGAGGGGGCATTTTGAAAGTCTGGAACATGGATACTTTTATGCCAGTGGGA c.4860
S G C R G G I L K V W N M D T F M P V G p.1620
. . . . . . g.146900
GAGATGAAGGGTCATGATAGTCCTATCAATGCCATATGTGTTAATTCCACCCACATTTTT c.4920
E M K G H D S P I N A I C V N S T H I F p.1640
. | 38 . . . . . g.153922
ACTGCAGCTGA | TGATCGAACTGTGAGAATTTGGAAGGCTCGCAATTTGCAAGATGGTCAG c.4980
T A A D | D R T V R I W K A R N L Q D G Q p.1660
. . . . g.153967
ATCTCTGACACAGGAGATCTGGGGGAAGATATTGCCAGTAATTAA c.5025
I S D T G D L G E D I A S N X p.1674
. . . . . . g.154027
acatgaatgaagataggttgtaaactgaatgctgtgataatactctgtattctttatgga c.*60
. . . . . . g.154087
aaatgttgtcctgtacttactaggcaaaacgtatgaatcggattaactggaaaatatatc c.*120
. . . . . . g.154147
tgaattcaactgctgactataaatggtattctaataaaattgtgtactatcctgtgtgct c.*180
. . . . . . g.154207
tagttttaagatcaaccaatagatatatatcctacaattgatatattgctttattcacac c.*240
. . . . . . g.154267
ttttattgtggctgaatttttgtgcctatctataaaacacactttcaaattatttgaatt c.*300
. . . . . . g.154327
accaagacgtctgcttttgtgacagtcagaaaacacacctggaatacgatgcagcccacc c.*360
. . . . . . g.154387
attaactcattcatgtagtttattcaagtgatttatgtatttaaactaaatattgaaaat c.*420
. . . . . . g.154447
gttagtcaaattgtggtttgcttgtcaggtatttatatcagtctgtagtggattcccaaa c.*480
. . . . . . g.154507
tttcaaagctcttttaatgtaatggacaaaaataagatatgagaatattattgatgaatt c.*540
. . . . . . g.154567
ttcataaggtggaattgatcttaatctactaacagagaagggtagacagtttgtgttaaa c.*600
. . . . . . g.154627
tgttggcatttacttgtattgaccaaagttttgcagctctactatattctgtgctcagga c.*660
. . . . . . g.154687
ctaaaatgctgttaatttttttttttttttccagtgctgtgcatatattctgtgatggga c.*720
. . . . . . g.154747
aacattgttgatgtcctaacagaaatatattttgatctattttcctatggagttgtttct c.*780
. . . . . . g.154807
attatgaccatttaattttgtttttatttaatagtagtatttccttcccttttatctaat c.*840
. . . . . . g.154867
tttttatatgctgctaaatatattttaaatatactatgtttgcgaaccttggtagctatg c.*900
. . . . . . g.154927
atgagagctattatcatctgtggtgggaaaagctatgtaaataggtagattgtatagaga c.*960
. . . . . . g.154987
gactatcttgtgttgtgcctgtatgaatttttaaaagttgttgactggattttgcaaaag c.*1020
. . . . . . g.155047
gatgtataatatttctgtctgctcagaatattaatttgtaaattctgcaagtttaatttt c.*1080
. . . . . . g.155107
tatgtagatggtataacatttgaaaatattgtcttatgtgattttttcccctgaaaatat c.*1140
. . . . . g.155163
ttgcttgtaaatgaaaacttagctagggcttaaataaacatgttgctatgaaatta c.*1196
(downstream sequence)
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