(used for variant description)
(last modified April 7, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_004521.2 in the KIF5B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering KIF5B transcript NM_004521.2.
(upstream sequence)
. . . . . g.5050
ctcctcccgcaccgccctgtcgcccaacggcggcctcaggagtgatcggg c.-421
. . . . . . g.5110
cagcagtcggccggccagcggacggcagagcgggcggacgggtaggcccggcctgctctt c.-361
. . . . . . g.5170
cgcgaggaggaagaaggtggccactctcccggtccccagaacctccccagcccccgcagt c.-301
. . . . . . g.5230
ccgcccagaccgtaaagggggacgctgaggagccgcggacgctctccccggtgccgccgc c.-241
. . . . . . g.5290
cgctgccgccgccatggctgccatgatggatcggaagtgagcattagggttaacggctgc c.-181
. . . . . . g.5350
cggcgccggctcttcaagtcccggctccccggccgcctccacccggggaagcgcagcgcg c.-121
. . . . . . g.5410
gcgcagctgactgctgcctctcacggccctcgcgaccacaagccctcaggtccggcgcgt c.-61
. . . . . . g.5470
tccctgcaagactgagcggcggggagtggctcccggccgccggccccggctgcgagaaag c.-1
. . . . . . g.5530
ATGGCGGACCTGGCCGAGTGCAACATCAAAGTGATGTGTCGCTTCAGACCTCTCAACGAG c.60
M A D L A E C N I K V M C R F R P L N E p.20
. . . . . . g.5590
TCTGAAGTGAACCGCGGCGACAAGTACATCGCCAAGTTTCAGGGAGAAGACACGGTCGTG c.120
S E V N R G D K Y I A K F Q G E D T V V p.40
| 02 . . . . . . g.12946
ATCGCG | TCCAAGCCTTATGCATTTGATCGGGTGTTCCAGTCAAGCACATCTCAAGAGCAA c.180
I A | S K P Y A F D R V F Q S S T S Q E Q p.60
. . . | 03 . . . g.21012
GTGTATAATGACTGTGCAAAGAAGATTGTTAAAG | ATGTACTTGAAGGATATAATGGAACA c.240
V Y N D C A K K I V K D | V L E G Y N G T p.80
. . . . | 04 . g.22024
ATATTTGCATATGGACAAACATCCTCTGGGAAGACACACACAATGGAG | GGTAAACTTCAT c.300
I F A Y G Q T S S G K T H T M E | G K L H p.100
. . . . . . g.22084
GATCCAGAAGGCATGGGAATTATTCCAAGAATAGTGCAAGATATTTTTAATTATATTTAC c.360
D P E G M G I I P R I V Q D I F N Y I Y p.120
. . . | 05 . . . g.22644
TCCATGGATGAAAATTTGGAATTTCATATTAAG | GTTTCATATTTTGAAATATATTTGGAT c.420
S M D E N L E F H I K | V S Y F E I Y L D p.140
. . | 06 . . . . g.23263
AAGATAAGGGACCTGTTAGATG | TTTCAAAGACCAACCTTTCAGTTCATGAAGACAAAAAC c.480
K I R D L L D V | S K T N L S V H E D K N p.160
. | 07 . . . . g.23878
CGAGTTCCCTATGTAAAG | GGGTGCACAGAGCGTTTTGTATGTAGTCCAGATGAAGTTATG c.540
R V P Y V K | G C T E R F V C S P D E V M p.180
. . . . | 08 . . g.24079
GATACCATAGATGAAGGAAAATCCAACAGACATGTAGCAGTTACAA | ATATGAATGAACAT c.600
D T I D E G K S N R H V A V T N | M N E H p.200
. . . . . . g.24139
AGCTCTAGGAGTCACAGTATATTTCTTATTAATGTCAAACAAGAGAACACACAAACGGAA c.660
S S R S H S I F L I N V K Q E N T Q T E p.220
. . . . . | 09 . g.25458
CAAAAGCTGAGTGGAAAACTTTATCTGGTTGATTTAGCTGGTAGTGAAAAG | GTTAGTAAA c.720
Q K L S G K L Y L V D L A G S E K | V S K p.240
. . . . . . g.25518
ACTGGAGCTGAAGGTGCTGTGCTGGATGAAGCTAAAAACATCAACAAGTCACTTTCTGCT c.780
T G A E G A V L D E A K N I N K S L S A p.260
. . . | 10 . . . g.25800
CTTGGAAATGTTATTTCTGCTTTGGCTGAGGGTAGT | ACATATGTTCCATATCGAGATAGT c.840
L G N V I S A L A E G S | T Y V P Y R D S p.280
. . . . . . g.25860
AAAATGACAAGAATCCTTCAAGATTCATTAGGTGGCAACTGTAGAACCACTATTGTAATT c.900
K M T R I L Q D S L G G N C R T T I V I p.300
. . . . . . g.25920
TGCTGCTCTCCATCATCATACAATGAGTCTGAAACAAAATCTACACTCTTATTTGGCCAA c.960
C C S P S S Y N E S E T K S T L L F G Q p.320
| 11 . . . . . . g.26663
AG | GGCCAAAACAATTAAGAACACAGTTTGTGTCAATGTGGAGTTAACTGCAGAACAGTGG c.1020
R | A K T I K N T V C V N V E L T A E Q W p.340
. . . . . . g.26723
AAAAAGAAGTATGAAAAAGAAAAAGAAAAAAATAAGATCCTGCGGAACACTATTCAGTGG c.1080
K K K Y E K E K E K N K I L R N T I Q W p.360
. . . | 12 . . . g.27434
CTTGAAAATGAGCTCAACAGATGGCGTAATG | GGGAGACGGTGCCTATTGATGAACAGTTT c.1140
L E N E L N R W R N G | E T V P I D E Q F p.380
. . . . . . g.27494
GACAAAGAGAAAGCCAACTTGGAAGCTTTCACAGTGGATAAAGATATTACTCTTACCAAT c.1200
D K E K A N L E A F T V D K D I T L T N p.400
. . . . . . g.27554
GATAAACCAGCAACCGCAATTGGAGTTATAGGAAATTTTACTGATGCTGAAAGAAGAAAG c.1260
D K P A T A I G V I G N F T D A E R R K p.420
. . . . | 13 . . g.28684
TGTGAAGAAGAAATTGCTAAATTATACAAACAGCTTGATGACAAG | GATGAAGAAATTAAC c.1320
C E E E I A K L Y K Q L D D K | D E E I N p.440
. . . . . | 14 . g.30170
CAGCAAAGTCAACTGGTAGAGAAACTGAAGACGCAAATGTTGGATCAGGAGGAG | CTTTTG c.1380
Q Q S Q L V E K L K T Q M L D Q E E | L L p.460
. . . . . . g.30230
GCATCTACCAGAAGGGATCAAGACAATATGCAAGCTGAGCTGAATCGCCTTCAAGCAGAA c.1440
A S T R R D Q D N M Q A E L N R L Q A E p.480
. . . . . . g.30290
AATGATGCCTCTAAAGAAGAAGTGAAAGAAGTTTTACAGGCCCTAGAAGAACTTGCTGTC c.1500
N D A S K E E V K E V L Q A L E E L A V p.500
. . . . . . g.30350
AATTATGATCAGAAGTCTCAGGAAGTTGAAGACAAAACTAAGGAATATGAATTGCTTAGT c.1560
N Y D Q K S Q E V E D K T K E Y E L L S p.520
. . | 15 . . . . g.32911
GATGAATTGAATCAGAAATCG | GCAACTTTAGCGAGTATAGATGCTGAGCTTCAGAAACTT c.1620
D E L N Q K S | A T L A S I D A E L Q K L p.540
. . . . . . g.32971
AAGGAAATGACCAACCACCAGAAAAAACGAGCAGCTGAGATGATGGCATCTTTACTAAAA c.1680
K E M T N H Q K K R A A E M M A S L L K p.560
. . . . | 16 . . g.38422
GACCTTGCAGAAATAGGAATTGCTGTGGGAAATAATGATGTAAAG | CAGCCTGAGGGAACT c.1740
D L A E I G I A V G N N D V K | Q P E G T p.580
. . . . . . g.38482
GGCATGATAGATGAAGAGTTCACTGTTGCAAGACTCTACATTAGCAAAATGAAGTCAGAA c.1800
G M I D E E F T V A R L Y I S K M K S E p.600
. . . . . . g.38542
GTAAAAACCATGGTGAAACGTTGCAAGCAGTTAGAAAGCACACAAACTGAGAGCAACAAA c.1860
V K T M V K R C K Q L E S T Q T E S N K p.620
. . . . . | 17 . g.39192
AAAATGGAAGAAAATGAAAAGGAGTTAGCAGCATGTCAGCTTCGTATCTCTCAA | CATGAA c.1920
K M E E N E K E L A A C Q L R I S Q | H E p.640
. . . . . . g.39252
GCCAAAATCAAGTCATTGACTGAATACCTTCAAAATGTGGAACAAAAGAAAAGACAGTTG c.1980
A K I K S L T E Y L Q N V E Q K K R Q L p.660
. . . . . | 18 . g.40164
GAGGAATCTGTCGATGCCCTCAGTGAAGAACTAGTCCAGCTTCGAGCACAAG | AGAAAGTC c.2040
E E S V D A L S E E L V Q L R A Q E | K V p.680
. . . . . | 19 . g.40318
CATGAAATGGAAAAGGAGCACTTAAATAAGGTTCAGACTGCAAATGAAGTTAAG | CAAGCT c.2100
H E M E K E H L N K V Q T A N E V K | Q A p.700
. . . . . . g.40378
GTTGAACAGCAGATCCAGAGCCATAGAGAAACTCATCAAAAACAGATCAGTAGTTTGAGA c.2160
V E Q Q I Q S H R E T H Q K Q I S S L R p.720
. . . . | 20 . . g.41500
GATGAAGTAGAAGCAAAAGCAAAACTTATTACTGATCTTCAAGA | CCAAAACCAGAAAATG c.2220
D E V E A K A K L I T D L Q D | Q N Q K M p.740
. . . . . . g.41560
ATGTTAGAGCAGGAACGTCTAAGAGTAGAACATGAGAAGTTGAAAGCCACAGATCAGGAA c.2280
M L E Q E R L R V E H E K L K A T D Q E p.760
. . | 21 . . . . g.42915
AAGAGCAGAAAACTACATGAACTTAC | GGTTATGCAAGATAGACGAGAACAAGCAAGACAA c.2340
K S R K L H E L T | V M Q D R R E Q A R Q p.780
. . | 22. . . . g.43089
GACTTGAAGGGTTTGGAAGAGACAGTG | GCAAAAGAACTTCAGACTTTACACAACCTGCGC c.2400
D L K G L E E T V | A K E L Q T L H N L R p.800
. . . | 23 . . g.43308
AAACTCTTTGTTCAGGACCTGGCTACAAGAGTTAAAAAG | AGTGCTGAGATTGATTCTGAT c.2460
K L F V Q D L A T R V K K | S A E I D S D p.820
. . . . . . g.43368
GACACCGGAGGCAGCGCTGCTCAGAAGCAAAAAATCTCCTTTCTTGAAAATAATCTTGAA c.2520
D T G G S A A Q K Q K I S F L E N N L E p.840
. . | 24 . . . . g.44120
CAGCTCACTAAAGTGCACAAACAG | TTGGTACGTGATAATGCAGATCTCCGCTGTGAACTT c.2580
Q L T K V H K Q | L V R D N A D L R C E L p.860
. . . . . . g.44180
CCTAAGTTGGAAAAGCGACTTCGAGCTACAGCTGAGAGAGTGAAAGCTTTGGAATCAGCA c.2640
P K L E K R L R A T A E R V K A L E S A p.880
. . . . . . g.44240
CTGAAAGAAGCTAAAGAAAATGCATCTCGTGATCGCAAACGCTATCAGCAAGAAGTAGAT c.2700
L K E A K E N A S R D R K R Y Q Q E V D p.900
. . . . . . g.44300
CGCATAAAGGAAGCAGTCAGGTCAAAGAATATGGCCAGAAGAGGGCATTCTGCACAGATT c.2760
R I K E A V R S K N M A R R G H S A Q I p.920
| 25 . . . . . . g.45843
G | CTAAACCTATTCGTCCCGGGCAACATCCAGCAGCTTCTCCAACTCACCCAAGTGCAATT c.2820
A | K P I R P G Q H P A A S P T H P S A I p.940
. . . . . . g.45903
CGTGGAGGAGGTGCATTTGTTCAGAACAGCCAGCCAGTGGCAGTGCGAGGTGGAGGAGGC c.2880
R G G G A F V Q N S Q P V A V R G G G G p.960
. g.45915
AAACAAGTGTAA | c.2893
K Q V X p.963
. . | 26 . . . . g.49967
tcgtttatacatacccacag | gtgttaaaaagtaatcgaagtacgaagaggacatggtatc c.*60
. . . . . . g.50027
aagcagtcattcaatgactataacctctactcccttgggattgtagaattataactttta c.*120
. . . . . . g.50087
aaaaaaatgtataaattatacctggcctgtacagctgtttcctacctactcttcttgtaa c.*180
. . . . . . g.50147
actctgctgcttcccaacacaactagagtgcaattttggcatcttaggagggaaaaagga c.*240
. . . . . . g.50207
cagtttacaactgtggccctatttattacacagtttgtctatcgtgtcttaaatttagtc c.*300
. . . . . . g.50267
tttactgtgccaagctaactgtaccttataggactgtactttttgtattttttgtgtatg c.*360
. . . . . . g.50327
tttattttttaatctcagtttaaattacctagctgctactgcttcttgtttttcttttcc c.*420
. . . . . . g.50387
tattaaaacgtcttcctttttttttcttaagagaaaatggaacatttaggttaaatgtct c.*480
. . . . . . g.50447
ttaaattttaccacttaacaacactacatgcccataaaatatatccagtcagtactgtat c.*540
. . . . . . g.50507
tttaaaatcccttgaaatgatgatatcagggttaaaattacttgtattgtttctgaagtt c.*600
. . . . . . g.50567
tgctcctgaaaactactgtttgagcactgaaacgttacaaatgcctaataggcatttgag c.*660
. . . . . . g.50627
actgagcaaggctacttgttatctcatgaaatgcctgttgccgagttattttgaatagaa c.*720
. . . . . . g.50687
atattttaaagtatcaaaagcagatcttagtttaagggagtttggaaaaggaattatatt c.*780
. . . . . . g.50747
tctctttttcctgattctgtactcaacaagtcttgatggaattaaaatactctgctttat c.*840
. . . . . . g.50807
tctggtgagcctgctagctaatataagtattggacaggtaataatttgtcatctttaata c.*900
. . . . . . g.50867
ttagtaaaatgaattaagatattataggattaaacataattttatacggttagtacttta c.*960
. . . . . . g.50927
ttggccgacctaaatttatagcgtgtggaaattgagaaaaatgaagaaacaggacagata c.*1020
. . . . . . g.50987
tatgatgaattaaaaatatatataggtcaattttggtctgaaatccctgaggtgttttta c.*1080
. . . . . . g.51047
acctgctacactaatttgtacactaatttatttctttagtctagaaatagtaaattgttt c.*1140
. . . . . . g.51107
gcaagtcactaataatcattagataaattattttcttggccatagccgataattttgtaa c.*1200
. . . . . . g.51167
tcagtactaagtgtatacgtatttttgccactttttcctcagatgattaaagtaagtcaa c.*1260
. . . . . . g.51227
cagcttattttaggaaactgtaaaagtaatagggaaagagatttcactatttgcttcatc c.*1320
. . . . . . g.51287
agtggtaggggggcggtgactgcaactgtgttagcagaaattcacagagaatggggattt c.*1380
. . . . . . g.51347
aaggttagcagagaaacttggaaagttctgtgttaggatcttgctggcagaattaacttt c.*1440
. . . . . . g.51407
ttgcaaaagttttatacacagatatttgtattaaatttggagccatagtcagaagactca c.*1500
. . . . . . g.51467
gatcataattggcttatttttctatttccgtaactattgtaatttccacttttgtaataa c.*1560
. . . . . . g.51527
ttttgatttaaaatataaatttatttatttatttttttaatagtcaaaaatctttgctgt c.*1620
. . . . . . g.51587
tgtagtctgcaacctctaaaatgattgtgttgcttttaggattgatcagaagaaacactc c.*1680
. . . . . . g.51647
caaaaattgagatgaaatgttggtgcagccagttataagtaatatagttaacaagcaaaa c.*1740
. . . . . . g.51707
aaagtgctgccaccttttatgatgattttctaaatggagaaacatttggctgcatccaca c.*1800
. . . . . . g.51767
tagacctttatgttttgttttcagttgaaaacttgcctcctttggcaacattcgtaaatg c.*1860
. . . . . . g.51827
aagcagaatttttttttctcttttttccaaatatgttagttttgttcttgtaagatgtat c.*1920
. . . . . . g.51887
catgggtattggtgctgtgtaatgaacaacgaattttaattagcatgtggttcagaatat c.*1980
. . . . . . g.51947
acaatgttaggtttttaaaaagtatcttgatggttcttttctatttataatttcagactt c.*2040
. . . . . . g.52007
tcataaagtgtaccaagaatttcataaatttgttttcagtgaactgctttttgctatggt c.*2100
. . . . . . g.52067
aggtcattaaacacagcacttactcttaaaaatgaaaatttctgatcatctaggatattg c.*2160
. . . . . . g.52127
acacatttcaatttgcagtgtctttttgactggatatattaacgttcctctgaatggcat c.*2220
. . . . . . g.52187
tgatagatggttcagaagagaaactcaatgaaataaagagaatatttattcatggcgatt c.*2280
. . . . . . g.52247
aattaaattatttgcctaacttaagaaaactactgtgcgtaactctcagtttgtgcttaa c.*2340
. . . . . . g.52307
ctccatttgacatgaggtgacagaagagagtctgagtctacctgtggaatatgttggttt c.*2400
. . . . . . g.52367
attttcagtgcttgaagatacattcacaaatacttggtttgggaagacaccgtttaattt c.*2460
. . . . . . g.52427
taagttaacttgcatgttgtaaatgcgttttatgtttaaataaagaggaaaattttttga c.*2520
g.52434
aatgtaa c.*2527
(downstream sequence)
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