(used for variant description)
(last modified May 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004798.3 in the KIF3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering KIF3B transcript NM_004798.3.
(upstream sequence)
. . . . . . g.5060
actgtctctccccatccggggcagcggggaatggctgagccaggggttcgccgcccccgc c.-121
. . . . . . | 02 g.37067
cgccgccgccgccgccgccgccgccgccgccgcccgctttcggctcgggcctcag | gaccg c.-61
. . . . . . g.37127
tagcatcctgagacattttgaattgacacttctcaagatttgactggatcagagttcatc c.-1
. . . . . . g.37187
ATGTCAAAGTTGAAAAGCTCAGAGTCAGTCAGGGTGGTGGTTCGCTGTCGGCCCATGAAT c.60
M S K L K S S E S V R V V V R C R P M N p.20
. . . . . . g.37247
GGCAAGGAAAAGGCTGCTTCGTATGACAAAGTGGTGGATGTGGATGTTAAGCTGGGGCAG c.120
G K E K A A S Y D K V V D V D V K L G Q p.40
. . . . . . g.37307
GTGTCTGTGAAGAACCCCAAAGGGACGGCCCATGAAATGCCCAAGACCTTCACCTTTGAT c.180
V S V K N P K G T A H E M P K T F T F D p.60
. . . . . . g.37367
GCCGTCTATGACTGGAATGCCAAGCAGTTTGAACTGTACGATGAGACGTTCCGACCACTT c.240
A V Y D W N A K Q F E L Y D E T F R P L p.80
. . . . . . g.37427
GTTGACTCTGTCCTGCAAGGTTTCAATGGAACCATTTTTGCCTATGGACAAACTGGGACA c.300
V D S V L Q G F N G T I F A Y G Q T G T p.100
. . . . . . g.37487
GGAAAAACCTACACCATGGAAGGAATCCGTGGTGACCCTGAAAAAAGAGGAGTCATTCCT c.360
G K T Y T M E G I R G D P E K R G V I P p.120
. . . . . . g.37547
AACTCATTTGACCATATCTTCACCCACATCTCTCGATCCCAGAATCAACAATACCTGGTC c.420
N S F D H I F T H I S R S Q N Q Q Y L V p.140
. . . . . . g.37607
AGGGCTTCTTACTTAGAGATCTACCAGGAGGAGATCCGAGATTTGCTCTCAAAGGATCAG c.480
R A S Y L E I Y Q E E I R D L L S K D Q p.160
. . . . . . g.37667
ACCAAAAGGCTTGAGCTCAAAGAGAGGCCTGACACAGGAGTGTATGTGAAAGACCTGTCT c.540
T K R L E L K E R P D T G V Y V K D L S p.180
. . . . . . g.37727
TCCTTTGTCACCAAGAGTGTGAAGGAGATAGAGCATGTGATGAATGTGGGGAACCAGAAC c.600
S F V T K S V K E I E H V M N V G N Q N p.200
. . . . . . g.37787
CGTTCTGTCGGTGCTACCAACATGAACGAGCACAGCTCGCGTTCTCATGCAATTTTCGTT c.660
R S V G A T N M N E H S S R S H A I F V p.220
. . . . . . g.37847
ATCACTATTGAGTGCAGCGAGGTGGGCCTCGATGGTGAAAACCACATCCGTGTAGGAAAA c.720
I T I E C S E V G L D G E N H I R V G K p.240
. . . . . . g.37907
TTGAACCTTGTAGATCTTGCTGGCAGCGAACGGCAAGCCAAGACCGGCGCACAAGGGGAG c.780
L N L V D L A G S E R Q A K T G A Q G E p.260
. . . . . . g.37967
AGATTAAAAGAAGCTACCAAGATCAACCTCTCCCTTTCCGCTTTGGGTAATGTCATCTCT c.840
R L K E A T K I N L S L S A L G N V I S p.280
. . . . . . g.38027
GCTCTAGTGGACGGCAAAAGCACTCACATTCCATATCGGGACTCAAAGCTTACCAGGCTC c.900
A L V D G K S T H I P Y R D S K L T R L p.300
. . . . . . g.38087
CTCCAAGATTCCCTTGGTGGCAATGCCAAGACTGTGATGGTGGCCAACGTGGGGCCTGCC c.960
L Q D S L G G N A K T V M V A N V G P A p.320
. . . . . . g.38147
TCTTACAACGTAGAAGAGACTCTGACCACTCTGCGATATGCCAACCGTGCCAAAAACATT c.1020
S Y N V E E T L T T L R Y A N R A K N I p.340
. . . . . . g.38207
AAGAACAAACCAAGGGTCAATGAGGACCCCAAGGATGCCCTCCTTCGAGAATTCCAGGAA c.1080
K N K P R V N E D P K D A L L R E F Q E p.360
. . . . . . g.38267
GAGATTGCTCGGCTCAAGGCCCAGCTGGAAAAACGGTCCATTGGTAGGAGGAAGAGGCGA c.1140
E I A R L K A Q L E K R S I G R R K R R p.380
. . . . . . g.38327
GAGAAGCGGAGGGAAGGTGGTGGCAGTGGTGGGGGTGGGGAAGAGGAGGAGGAGGAGGGA c.1200
E K R R E G G G S G G G G E E E E E E G p.400
. . . . . . g.38387
GAAGAGGGTGAGGAGGAAGGGGATGATAAGGATGATTACTGGCGGGAACAGCAAGAAAAA c.1260
E E G E E E G D D K D D Y W R E Q Q E K p.420
. . . . . . g.38447
CTGGAGATTGAGAAGCGGGCCATTGTAGAGGATCACAGCTTGGTTGCAGAGGAGAAGATG c.1320
L E I E K R A I V E D H S L V A E E K M p.440
. . . . . . g.38507
AGGCTGCTGAAGGAGAAAGAGAAAAAGATGGAGGACCTGCGGCGGGAGAAGGATGCTGCC c.1380
R L L K E K E K K M E D L R R E K D A A p.460
. . | 03 . . . . g.43603
GAGATGCTGGGCGCCAAGATCAAG | GCCATGGAGAGTAAGTTGCTTGTTGGAGGAAAAAAT c.1440
E M L G A K I K | A M E S K L L V G G K N p.480
. . . . . . g.43663
ATAGTAGATCATACGAATGAACAGCAGAAAATCCTGGAGCAGAAACGACAGGAAATTGCA c.1500
I V D H T N E Q Q K I L E Q K R Q E I A p.500
| 04 . . . . . . g.43930
GAGCAG | AAACGTCGAGAAAGAGAAATCCAGCAACAGATGGAAAGTCGAGATGAGGAGACC c.1560
E Q | K R R E R E I Q Q Q M E S R D E E T p.520
. . . . . . g.43990
TTGGAACTTAAAGAGACATACAGCTCATTGCAGCAAGAGGTGGACATCAAGACCAAAAAA c.1620
L E L K E T Y S S L Q Q E V D I K T K K p.540
| 05 . . . . . g.44156
CTCAAAAAG | CTCTTCTCCAAGCTTCAGGCAGTGAAGGCTGAGATCCATGACCTCCAAGAA c.1680
L K K | L F S K L Q A V K A E I H D L Q E p.560
. . . . . . g.44216
GAACACATCAAGGAGCGCCAAGAGCTAGAGCAGACTCAGAATGAGCTCACCAGGGAGCTG c.1740
E H I K E R Q E L E Q T Q N E L T R E L p.580
| 06 . . . . . g.54172
AAACTCAA | GCATCTTATTATAGAAAACTTTATCCCTCTGGAAGAAAAAAGTAAAATTATG c.1800
K L K | H L I I E N F I P L E E K S K I M p.600
. . . . . . g.54232
AATAGAGCCTTCTTTGATGAAGAGGAAGATCATTGGAAACTACATCCTATAACCAGACTG c.1860
N R A F F D E E E D H W K L H P I T R L p.620
| 07 . . . . . . g.54963
GA | GAACCAGCAGATGATGAAGCGGCCAGTCTCAGCCGTGGGATATAAGAGACCATTGAGC c.1920
E | N Q Q M M K R P V S A V G Y K R P L S p.640
. . . . | 08 . g.57502
CAGCACGCAAGAATGTCCATGATGATTCGTCCAGAGGCCCGATATAGG | GCAGAAAACATT c.1980
Q H A R M S M M I R P E A R Y R | A E N I p.660
. . . . . . g.57562
GTGCTGTTAGAGCTGGACATGCCCAGCCGGACCACCAGAGACTATGAGGGTCCAGCCATT c.2040
V L L E L D M P S R T T R D Y E G P A I p.680
. . . . . . g.57622
GCCCCCAAGGTCCAGGCTGCATTGGATGCGGCTCTGCAGGATGAAGATGAGATACAGGTG c.2100
A P K V Q A A L D A A L Q D E D E I Q V p.700
. . . . | 09. . g.58585
GATGCATCATCATTTGAAAGCACTGCAAATAAGAAATCCAAGGCCAG | GCCTAAAAGTGGA c.2160
D A S S F E S T A N K K S K A R | P K S G p.720
. . . . . . g.58645
AGGAAGTCGGGATCCTCCTCCTCTTCCTCAGGAACCCCTGCATCTCAGCTTTATCCACAG c.2220
R K S G S S S S S S G T P A S Q L Y P Q p.740
. . g.58669
TCTCGGGGGCTGGTTCCAAAGTAA c.2244
S R G L V P K X p.747
. . . . . . g.58729
agccagcttctcctctcccagggcggaaacagcatttgccttctgagagaagagactagc c.*60
. . . . . . g.58789
aaaaagctgcagagaggattcggcccaaactcagaactgttcccctgaggagaagcggtg c.*120
. . . . . . g.58849
gcctctttgcagatcaaccaacttaatctggttgaacgtgctgttcctaatctggcactc c.*180
. . . . . . g.58909
agcccctctgggaaacatcttttaattagcatctcagaaatgcatgggtaaggtaaagtg c.*240
. . . . . . g.58969
cgatagttcaagtggaaagcaagagaatgaccagtgaccttgcttccttcccccttgcct c.*300
. . . . . . g.59029
tcttctcccccttcccctgtgctccctttctctcctctctccttttctagcctgttcttt c.*360
. . . . . . g.59089
acatggggctcccttcttgttgaacaatagggcagaatcaggagtcaccttagcaggacc c.*420
. . . . . . g.59149
acatctttggagcctcgggataaaatgacagtgaggttgaaaagtgaaaaccctagaact c.*480
. . . . . . g.59209
tgaataggtgcctgttcttgtagggagaaatgagaaatcgcatttggatccaggccccag c.*540
. . . . . . g.59269
gtgggcaccatcagcagtcttgcttccatgcacctcagtaagaagtggatctgcctttgg c.*600
. . . . . . g.59329
gacctgctcagtgaggaaatctcttccaatttctgcttctgaatgattcaatgttgggag c.*660
. . . . . . g.59389
caatagaaataacattccctttgccttctctgagtgtttagggaaatagcttctttaaaa c.*720
. . . . . . g.59449
cctcaaaaccatgaccatcctgtcaaagacctaagtctgtaagctggtgccatgtccata c.*780
. . . . . . g.59509
caccatgtcactttactcttcatttgtcaccatcttttcccatgcacgcatactctgaac c.*840
. . . . . . g.59569
atccttgtgtgggcccatcctctgcatccagagcatgctctgcagtgggcctgttttgtg c.*900
. . . . . . g.59629
gaagaaaggaggctgtctctgccttctctgatgggactggagttgagggaaggagctgta c.*960
. . . . . . g.59689
ttgtggcacttctgaattccccgttttgttccatattggtatagagagcagaagagtagc c.*1020
. . . . . . g.59749
taggcagatgcagagatggagacatgagactcagtgcagtgggcagggaagacataacag c.*1080
. . . . . . g.59809
atggaagcaaaggaatcctgcctgccttcagcagagaattcaccgaatcctagaactgtg c.*1140
. . . . . . g.59869
gctccctccaggcagagcctaagatgctggtgaagaatagctgtgtgattgaataggctc c.*1200
. . . . . . g.59929
aaaggagagttcagaattcccatttacatattactagtttggtttgtaagttttagttcc c.*1260
. . . . . . g.59989
ttgtattattgagattcagagcttcattttatgttggtcattaggtgaatattactcatt c.*1320
. . . . . . g.60049
ttccctcaagagaagctcataagtgtgtgtgggtgtgagagcacgatggtgcctgtgttc c.*1380
. . . . . . g.60109
tgtgaatgtgtccatatgtgtctgtaagagagacagagaccaagaacttgcccaatttta c.*1440
. . . . . . g.60169
gaaatacactaatgtgcagttgttgccttttgtctgtattgaaggcccattgaatgacta c.*1500
. . . . . . g.60229
atccaggctggaagcattcccatgtgggtgtctgagtccatgagccaagcctgaggggac c.*1560
. . . . . . g.60289
agtgagtctccaggtctgccacactggtgcaccttgctggcacggtgcctcaggaaggtg c.*1620
. . . . . . g.60349
gcgactcaggtgggccttgagttatattttaactcagctgctcagttcccagggcacatt c.*1680
. . . . . . g.60409
tctggatcagaacccatgggaaacaggaggtactaagtgcaatgtcttagcattctgcaa c.*1740
. . . . . . g.60469
aatggagatctgttgtccagcggcttatctcctttttagtaacccttctttctgaaccca c.*1800
. . . . . . g.60529
gggcccttttcagccttccctcatattttcttgagatcaaactttacttctttcttattt c.*1860
. . . . . . g.60589
actaagaatttgcctgtttgaataagaacaaaacgctaaggtgggtagcctaagctgatt c.*1920
. . . . . . g.60649
ttctgctggttacacgtgtctctcacaccacatttcctcaaagctaatctgaattctgta c.*1980
. . . . . . g.60709
ggctaaaaatattcatgtagcaaatctgagaattgaaaactgcagataaccggccgggta c.*2040
. . . . . . g.60769
tggtgactcatgcctgtaatcctagcactttgggaggccgaggtgggtggaccacctgag c.*2100
. . . . . . g.60829
gttaggacttcaagaccagcctggccaacatggtgaaaccccatctgtactaaaaataca c.*2160
. . . . . . g.60889
aaaatttgcctggtgtggtggtgcatgcctctagtcctagctactcgggaggctgaggca c.*2220
. . . . . . g.60949
cgagaatcacttgaacctgggaggcggaggttgcagtgagtcgagataacactactgcat c.*2280
. . . . . . g.61009
tccagcctgggtgacagagtgagactccccctcaaaaaaaaaaaaaaaaaaaaaaaaaac c.*2340
. . . . . . g.61069
agaaagaaagaaaaagaaaactgcagataaccctatacattaatactggtatctcgaggt c.*2400
. . . . . . g.61129
gactcttctgaccaagggtggttaagtgacacatagaacttttctaagagaagacagaca c.*2460
. . . . . . g.61189
agttgacaggcatgccttgtactcagctgtgttcatgtggtggtctgtggaaagaaaaga c.*2520
. . . . . . g.61249
agactcatttggaaatgaagctgtccctttccaagcagtctctggtgcttttcttctctc c.*2580
. . . . . . g.61309
aaaatggatccgataaatatttgaatagagcagattgtagaatgtcgtgctgtcaccaga c.*2640
. . . . . . g.61369
aagctgctgttttgggttctgcattgagccaaatatgtagaggacctaccaagcccactg c.*2700
. . . . . . g.61429
agggactaggttttcatgtctctagtcatacctagaatgttctgagccgtctgagggcct c.*2760
. . . . . . g.61489
tcatgccggcagcagctagcaaagccagaaagcaagtctaacaggatctaagatgaccat c.*2820
. . . . . . g.61549
caggagaaggagtttgagactgtgtatgcaacccccaatagacccccttttactctgatc c.*2880
. . . . . . g.61609
tggagaatgtatctggcttcatattttcaagtcacatgtctctcagacccctggattcag c.*2940
. . . . . . g.61669
aacccaaggccacaaatcataggcatgaagcactttcttaagactgacctaacgctggat c.*3000
. . . . . . g.61729
tatttcccgtccaatgcctgcatgctgcttgaattgctccacccacacctccatgaccaa c.*3060
. . . . . . g.61789
gggcgccagagtgctgcaactggggcgtgggccgctctctgcttttcctgtctgactctg c.*3120
. . . . . . g.61849
acaagtcctccctcactgaatgtagaatcgttgccaagtttctgagaagtgtcgattccc c.*3180
. . . . . . g.61909
tgttaacatggatatcagttctgcctcacatttcccacttgaggttgaggcgtactggag c.*3240
. . . . . . g.61969
acaacacctcagaccatctgaaccccatcagtggacgaaaatggggctgttaatatactc c.*3300
. . . . . . g.62029
taaaagccatactaaaaatgctctgagggaactggctaagaatagtgggcctggtgattg c.*3360
. . . . . . g.62089
tctatcacgcaaggctttgttttgtactgttcagaaatctgtcacctttctgcctgccct c.*3420
. . . . . . g.62149
tgtttcctgaatgaaatgcttctggggttatttatgaaaggagtgatcctggggcaggca c.*3480
. . . . . . g.62209
ggaggcagtgggcttcatggctccttgaagttattactgatcttgaccttctctttggct c.*3540
. . . . . . g.62269
acctttagacaaagaatacgccaatcaatacttggggctctaagttttacaattgatatt c.*3600
. . . . . . g.62329
tatttgtatcatctctttgtctaggaatgtaaaagtgattctaaactaagatgtgtaata c.*3660
. . . g.62361
aaaatcaatcagatttattgtacctacaaaaa c.*3692
(downstream sequence)
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