(used for variant description)
(last modified February 26, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_183381.2 in the RNF13 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering RNF13 transcript NM_183381.2.
(upstream sequence)
. . g.5022
ggatgaggcctcgccctcgcct c.-661
. . . . . . g.5082
ctttagtaggtcgggtgagtgtagtgtgcagggaagagacgcgtcagcgccagggccagg c.-601
. . . . . . g.5142
cccgcccgggggcagcccggcagccgaatcttgggctactctgtcccaacagccggagca c.-541
. . . . . . g.5202
gatcagaccgaccggccctgcccgctcggtcccgcgccctccagaccctacggtctccgt c.-481
. . . . . . g.5262
ttctaggggcacatggttagcggcaggcgcccacagccaatccactttgccagcctgccc c.-421
. . . . . . g.5322
cttcctctgccaagagcagcttcttcagccgcgctccagttccgcagacgcctgccccac c.-361
. . . . . . g.5382
cctgctcttcccttccagggaagacggatcacgcggccaagaacgagactcgcaaactgg c.-301
. . . . . . g.5442
gcatttctccgagccgggctagagcaagtagcgagactccgcgtgagagtgggaaagagc c.-241
. . . . . . g.5502
cttaacaggcaaccatgttgcccagtgggttttctgtgcctttgggtgcggaccaatgag c.-181
. . . . . . g.5562
gcgcgtggggcgggacttccgcttcgcctaggtgttgtcgtccctgctagtactccgggc c.-121
. . . . . . g.5622
tgtgggggtcggtgcggatattcagtcatgaaatcagggtagggacttctcccgcagcga c.-61
. . . . . | 02 . g.38339
cgcggctggcaagactgtttgtgttgcgggggccggacttcaag | gtgattttacaacgag c.-1
. . . . . . g.38399
ATGCTGCTCTCCATAGGGATGCTCATGCTGTCAGCCACACAAGTCTACACCATCTTGACT c.60
M L L S I G M L M L S A T Q V Y T I L T p.20
. . . . . | 03 . g.44834
GTCCAGCTCTTTGCATTCTTAAACCTACTGCCTGTAGAAGCAGACATTTTAGCA | TATAAC c.120
V Q L F A F L N L L P V E A D I L A | Y N p.40
. . . . . . g.44894
TTTGAAAATGCATCTCAGACATTTGATGACCTCCCTGCAAGATTTGGTTATAGACTTCCA c.180
F E N A S Q T F D D L P A R F G Y R L P p.60
. | 04 . . . . . g.64386
GCTGAAGGTTTAAAG | GGTTTTTTGATTAACTCAAAACCAGAGAATGCCTGTGAACCCATA c.240
A E G L K | G F L I N S K P E N A C E P I p.80
. . . . . . g.64446
GTGCCTCCACCAGTAAAAGACAATTCATCTGGCACTTTCATCGTGTTAATTAGAAGACTT c.300
V P P P V K D N S S G T F I V L I R R L p.100
. . | 05 . . . . g.87824
GATTGTAATTTTGATATAAAG | GTTTTAAATGCACAGAGAGCAGGATACAAGGCAGCCATA c.360
D C N F D I K | V L N A Q R A G Y K A A I p.120
. . . . | 06 . g.94395
GTTCACAATGTTGATTCTGATGACCTCATTAGCATGGGATCCAACGACA | TTGAGGTACTA c.420
V H N V D S D D L I S M G S N D I | E V L p.140
. . . . . . g.94455
AAGAAAATTGACATTCCATCTGTCTTTATTGGTGAATCATCAGCTAATTCTCTGAAAGAT c.480
K K I D I P S V F I G E S S A N S L K D p.160
. . | 07 . . . . g.104330
GAATTCACATATGAAAAAGG | GGGCCACCTTATCTTAGTTCCAGAATTTAGTCTTCCTTTG c.540
E F T Y E K G | G H L I L V P E F S L P L p.180
. . . . . . g.104390
GAATACTACCTAATTCCCTTCCTTATCATAGTGGGCATCTGTCTCATCTTGATAGTCATT c.600
E Y Y L I P F L I I V G I C L I L I V I p.200
| 08 . . . . . . g.113500
TTCATG | ATCACAAAATTTGTCCAGGATAGACATAGAGCTAGAAGAAACAGACTTCGTAAA c.660
F M | I T K F V Q D R H R A R R N R L R K p.220
. . . . | 09 . . g.152388
GATCAACTTAAGAAACTTCCTGTACATAAATTCAAGAAAG | GAGATGAGTATGATGTATGT c.720
D Q L K K L P V H K F K K G | D E Y D V C p.240
. . . . . . g.152448
GCCATTTGTTTGGATGAGTATGAAGATGGAGACAAACTCAGAATCCTTCCCTGTTCCCAT c.780
A I C L D E Y E D G D K L R I L P C S H p.260
| 10 . . . . . . g.153111
G | CTTATCACTGCAAGTGTGTAGACCCTTGGCTAACTAAAACCAAAAAAACCTGTCCAGTG c.840
A | Y H C K C V D P W L T K T K K T C P V p.280
. . . . . . g.153171
TGCAAGCAAAAAGTTGTTCCTTCTCAAGGCGATTCAGACTCTGACACAGACAGTAGTCAA c.900
C K Q K V V P S Q G D S D S D T D S S Q p.300
. . . . . . g.153231
GAAGAAAATGAAGTGACAGAACATACCCCTTTACTGAGACCTTTAGCTTCTGTCAGTGCC c.960
E E N E V T E H T P L L R P L A S V S A p.320
. . . . . . g.153291
CAGTCATTTGGGGCTTTATCGGAATCCCGCTCACATCAGAACATGACAGAATCTTCAGAC c.1020
Q S F G A L S E S R S H Q N M T E S S D p.340
. . . . . . g.153351
TATGAGGAAGACGACAATGAAGATACTGACAGTAGTGATGCAGAAAATGAAATTAATGAA c.1080
Y E E D D N E D T D S S D A E N E I N E p.360
. . . . . . g.153411
CATGATGTCGTGGTCCAGTTGCAGCCTAATGGTGAACGGGATTACAACATAGCAAATACT c.1140
H D V V V Q L Q P N G E R D Y N I A N T p.380
g.153417
GTTTGA c.1146
V X p.381
. . . . . . g.153477
ctttcagaagatgattggtttatttccctttaaaatgattaggtatatactgtaatttga c.*60
. . . . . . g.153537
ttttttgctcccttcaaagatttctgtagaaataacttattttttagtattctacagttt c.*120
. . . . . . g.153597
aatcaaattactgaaacaggacttttgatctggtatttatctgccaagaatatacttcat c.*180
. . . . . . g.153657
tcactaataatagactggtgctgtaactcaagcatcaattcagctcttcttttggaatga c.*240
. . . . . . g.153717
aagtatagccaaaacataaaaaaaaaaaaatcctcagtatagcttgcaattaagacctag c.*300
. . . . . . g.153777
atcacagtatttaagtgttttgcgttttatacatgaggtcagtgctacagccacctagca c.*360
. . . . . . g.153837
tgaactaacccagcttccacctccataaagttacctagagttgttgagttggaatatgtt c.*420
. . . . . . g.153897
ctggcatttacctgacctgccaatcattagggagaggcaacaaggtaattcagcctttcc c.*480
. . . . . . g.153957
tcctatcagcacaaagaaactcaaagctgttttttccctttctgttccaaagcagtctta c.*540
. . . . . . g.154017
tcctgacaggagcggtctatactagtgcagatttcaacacttttttttaacgttttaatt c.*600
. . . . . . g.154077
actatagtgttatgtagagatttgattgagcagctaatgtttctgaactttacttactaa c.*660
. . . . . . g.154137
ttttcagtgtccttaagggttctgtagtgttatcaaagcaaaaagaaaatgctgcataaa c.*720
. . . . . . g.154197
aataccaaacttcagcaactgttaatactcagatcatatacctcttaataaatagcatct c.*780
. . . . . . g.154257
tatgctaattagccctgctaaactatgtacagaggaaactgttcaagtattggatttgaa c.*840
. . . . . . g.154317
agtaagtgacttatgtttaacagaactaatgatgtattgaaacactgtattatgaaaagc c.*900
. . . . . . g.154377
taaattatacatcattgtaactatgtagaaagtgtagactaatgtataatcaaaatgcta c.*960
. . . . . . g.154437
aggatttttatatggccttgtatgaggggagtttgaatgttaataaacatgttttccact c.*1020
. g.154452
ttaagatccagtaaa c.*1035
(downstream sequence)
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