(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003380.3 in the VIM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012413.1, covering VIM transcript NM_003380.3.
(upstream sequence)
. . . . . g.5053
gcctctccaaaggctgcagaagtttcttgctaacaaaaagtccgcacattcga c.-361
. . . . . . g.5113
gcaaagacaggctttagcgagttattaaaaacttaggggcgctcttgtcccccacagggc c.-301
. . . . . . g.5173
ccgaccgcacacagcaaggcgatggcccagctgtaagttggtagcactgagaactagcag c.-241
. . . . . . g.5233
cgcgcgcggagcccgctgagacttgaatcaatctggtctaacggtttcccctaaaccgct c.-181
. . . . | 02 . . g.6044
aggagccctcaatcggcgggacagcagggcgcg | tcctctgccactctcgctccgaggtcc c.-121
. . . . . . g.6104
ccgcgccagagacgcagccgcgctcccaccacccacacccaccgcgccctcgttcgcctc c.-61
. . . . . . g.6164
ttctccgggagccagtccgcgccaccgccgccgcccaggccatcgccaccctccgcagcc c.-1
. . . . . . g.6224
ATGTCCACCAGGTCCGTGTCCTCGTCCTCCTACCGCAGGATGTTCGGCGGCCCGGGCACC c.60
M S T R S V S S S S Y R R M F G G P G T p.20
. . . . . . g.6284
GCGAGCCGGCCGAGCTCCAGCCGGAGCTACGTGACTACGTCCACCCGCACCTACAGCCTG c.120
A S R P S S S R S Y V T T S T R T Y S L p.40
. . . . . . g.6344
GGCAGCGCGCTGCGCCCCAGCACCAGCCGCAGCCTCTACGCCTCGTCCCCGGGCGGCGTG c.180
G S A L R P S T S R S L Y A S S P G G V p.60
. . . . . . g.6404
TATGCCACGCGCTCCTCTGCCGTGCGCCTGCGGAGCAGCGTGCCCGGGGTGCGGCTCCTG c.240
Y A T R S S A V R L R S S V P G V R L L p.80
. . . . . . g.6464
CAGGACTCGGTGGACTTCTCGCTGGCCGACGCCATCAACACCGAGTTCAAGAACACCCGC c.300
Q D S V D F S L A D A I N T E F K N T R p.100
. . . . . . g.6524
ACCAACGAGAAGGTGGAGCTGCAGGAGCTGAATGACCGCTTCGCCAACTACATCGACAAG c.360
T N E K V E L Q E L N D R F A N Y I D K p.120
. . . . . . g.6584
GTGCGCTTCCTGGAGCAGCAGAATAAGATCCTGCTGGCCGAGCTCGAGCAGCTCAAGGGC c.420
V R F L E Q Q N K I L L A E L E Q L K G p.140
. . . . . . g.6644
CAAGGCAAGTCGCGCCTGGGGGACCTCTACGAGGAGGAGATGCGGGAGCTGCGCCGGCAG c.480
Q G K S R L G D L Y E E E M R E L R R Q p.160
. . . . . . g.6704
GTGGACCAGCTAACCAACGACAAAGCCCGCGTCGAGGTGGAGCGCGACAACCTGGCCGAG c.540
V D Q L T N D K A R V E V E R D N L A E p.180
. . | 03 . . . . g.7428
GACATCATGCGCCTCCGGGAGAA | ATTGCAGGAGGAGATGCTTCAGAGAGAGGAAGCCGAA c.600
D I M R L R E K | L Q E E M L Q R E E A E p.200
. . | 04 . . . . g.10364
AACACCCTGCAATCTTTCAGACAG | GATGTTGACAATGCGTCTCTGGCACGTCTTGACCTT c.660
N T L Q S F R Q | D V D N A S L A R L D L p.220
. . . . . . g.10424
GAACGCAAAGTGGAATCTTTGCAAGAAGAGATTGCCTTTTTGAAGAAACTCCACGAAGAG c.720
E R K V E S L Q E E I A F L K K L H E E p.240
| 05 . . . . . . g.10571
| GAAATCCAGGAGCTGCAGGCTCAGATTCAGGAACAGCATGTCCAAATCGATGTGGATGTT c.780
| E I Q E L Q A Q I Q E Q H V Q I D V D V p.260
. . . . . . g.10631
TCCAAGCCTGACCTCACGGCTGCCCTGCGTGACGTACGTCAGCAATATGAAAGTGTGGCT c.840
S K P D L T A A L R D V R Q Q Y E S V A p.280
. . . . | 06 . . g.11452
GCCAAGAACCTGCAGGAGGCAGAAGAATGGTACAAATCCAAG | TTTGCTGACCTCTCTGAG c.900
A K N L Q E A E E W Y K S K | F A D L S E p.300
. . . . . . g.11512
GCTGCCAACCGGAACAATGACGCCCTGCGCCAGGCAAAGCAGGAGTCCACTGAGTACCGG c.960
A A N R N N D A L R Q A K Q E S T E Y R p.320
. . . . | 07 . g.11922
AGACAGGTGCAGTCCCTCACCTGTGAAGTGGATGCCCTTAAAGGAACC | AATGAGTCCCTG c.1020
R Q V Q S L T C E V D A L K G T | N E S L p.340
. . . . . . g.11982
GAACGCCAGATGCGTGAAATGGAAGAGAACTTTGCCGTTGAAGCTGCTAACTACCAAGAC c.1080
E R Q M R E M E E N F A V E A A N Y Q D p.360
. . . . . . g.12042
ACTATTGGCCGCCTGCAGGATGAGATTCAGAATATGAAGGAGGAAATGGCTCGTCACCTT c.1140
T I G R L Q D E I Q N M K E E M A R H L p.380
. . . . . . g.12102
CGTGAATACCAAGACCTGCTCAATGTTAAGATGGCCCTTGACATTGAGATTGCCACCTAC c.1200
R E Y Q D L L N V K M A L D I E I A T Y p.400
. . | 08 . . . g.12618
AGGAAGCTGCTGGAAGGCGAGGAGAGCAG | GATTTCTCTGCCTCTTCCAAACTTTTCCTCC c.1260
R K L L E G E E S R | I S L P L P N F S S p.420
. | 09 . . . . . g.13082
CTGAACCTGAGGG | AAACTAATCTGGATTCACTCCCTCTGGTTGATACCCACTCAAAAAGG c.1320
L N L R E | T N L D S L P L V D T H S K R p.440
. . . | 10 . . g.13992
ACACTTCTGATTAAGACGGTTGAAACTAGAGATGGACAG | GTTATCAACGAAACTTCTCAG c.1380
T L L I K T V E T R D G Q | V I N E T S Q p.460
. . g.14013
CATCACGATGACCTTGAATAA c.1401
H H D D L E X p.466
. . . . . . g.14073
aaattgcacacactcagtgcagcaatatattaccagcaagaataaaaaagaaatccatat c.*60
. . . . . . g.14133
cttaaagaaacagctttcaagtgcctttctgcagtttttcaggagcgcaagatagatttg c.*120
. . . . . . g.14193
gaataggaataagctctagttcttaacaaccgacactcctacaagatttagaaaaaagtt c.*180
. . . . . . g.14253
tacaacataatctagtttacagaaaaatcttgtgctagaatactttttaaaaggtatttt c.*240
. . . . . . g.14313
gaataccattaaaactgcttttttttttccagcaagtatccaaccaacttggttctgctt c.*300
. . g.14335
caataaatctttggaaaaactc c.*322
(downstream sequence)
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