(used for variant description)
(last modified September 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_024334.2 in the TMEM43 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008975.1, covering TMEM43 transcript NM_024334.2.
(upstream sequence)
. g.5014
tttgcagtgcgcag c.-241
. . . . . . g.5074
gcgcatcaatgaggtactgcaatgtcccggaccgtatagtttccaggacgtctcgccgcg c.-181
. . . . . . g.5134
cgcatgcgcagaaacactgggcacagggggaggtaactgcagtaagtcccgcttggccct c.-121
. . . . . . g.5194
ggagtccacgcggattttcgaagctggggctggcaagaggccgctggacaccacgctcca c.-61
. . . . . . g.5254
gtcgtcagcccacttcctagctgaacagcgcgaggcggcggcagcgagccgggtcccacc c.-1
. | 02 . . . . . g.9520
ATGGCCGCGAAT | TATTCCAGTACCAGTACCCGGAGAGAACATGTCAAAGTTAAAACCAGC c.60
M A A N | Y S S T S T R R E H V K V K T S p.20
. . . . . . g.9580
TCCCAGCCAGGCTTCCTGGAACGGCTGAGCGAGACCTCGGGTGGGATGTTTGTGGGGCTC c.120
S Q P G F L E R L S E T S G G M F V G L p.40
. . . . | 03 . . g.10900
ATGGCCTTCCTGCTCTCCTTCTACCTAATTTTCACCAATGAG | GGCCGCGCATTGAAGACG c.180
M A F L L S F Y L I F T N E | G R A L K T p.60
. . . . . . g.10960
GCAACCTCATTGGCTGAGGGGCTCTCGCTTGTGGTGTCTCCCGACAGCATCCACAGTGTG c.240
A T S L A E G L S L V V S P D S I H S V p.80
. . . . . | 04. g.11643
GCTCCGGAGAATGAAGGAAGGCTGGTGCACATCATTGGCGCCTTACGGACATCCAAG | CTT c.300
A P E N E G R L V H I I G A L R T S K | L p.100
. . . . . . g.11703
TTGTCTGATCCAAACTATGGGGTCCATCTTCCGGCTGTGAAACTGCGGAGGCACGTGGAG c.360
L S D P N Y G V H L P A V K L R R H V E p.120
. . . | 05 . . . g.12634
ATGTACCAATGGGTAGAAACTGAGGAGTCCAG | GGAGTACACCGAGGATGGGCAGGTGAAG c.420
M Y Q W V E T E E S R | E Y T E D G Q V K p.140
. . | 06 . . . . g.12964
AAGGAGACGAGGTATTCCTACA | ACACTGAATGGAGGTCAGAAATCATCAACAGCAAAAAC c.480
K E T R Y S Y N | T E W R S E I I N S K N p.160
. . . | 07 . . . g.13827
TTCGACCGAGAGATTGGCCACAAAAACCCCAG | TGCCATGGCAGTGGAGTCATTCATGGCA c.540
F D R E I G H K N P S | A M A V E S F M A p.180
. . . . | 08 . . g.14847
ACAGCCCCCTTTGTCCAAATTGGCAGGTTTTTCCTCTCGTCAG | GCCTCATCGACAAAGTC c.600
T A P F V Q I G R F F L S S G | L I D K V p.200
. . . . . . g.14907
GACAACTTCAAGTCCCTGAGCCTATCCAAGCTGGAGGACCCTCATGTGGACATCATTCGC c.660
D N F K S L S L S K L E D P H V D I I R p.220
. . . . | 09 . . g.15233
CGTGGAGACTTTTTCTACCACAGCGAAAATCCCAAGTATCCAGAG | GTGGGAGACTTGCGT c.720
R G D F F Y H S E N P K Y P E | V G D L R p.240
. . . . . . g.15293
GTCTCCTTTTCCTATGCTGGACTGAGCGGCGATGACCCTGACCTGGGCCCAGCTCACGTG c.780
V S F S Y A G L S G D D P D L G P A H V p.260
| 10 . . . . . . g.15927
| GTCACTGTGATTGCCCGGCAGCGGGGTGACCAGCTAGTCCCATTCTCCACCAAGTCTGGG c.840
| V T V I A R Q R G D Q L V P F S T K S G p.280
. . . . | 11 . . g.19258
GATACCTTACTGCTCCTGCACCACGGGGACTTCTCAGCAGAG | GAGGTGTTTCATAGAGAA c.900
D T L L L L H H G D F S A E | E V F H R E p.300
. . . . . . g.19318
CTAAGGAGCAACTCCATGAAGACCTGGGGCCTGCGGGCAGCTGGCTGGATGGCCATGTTC c.960
L R S N S M K T W G L R A A G W M A M F p.320
. . . . | 12 . . g.21673
ATGGGCCTCAACCTTATGACACGGATCCTCTACACCTTGG | TGGACTGGTTTCCTGTTTTC c.1020
M G L N L M T R I L Y T L V | D W F P V F p.340
. . . . . . g.21733
CGAGACCTGGTCAACATTGGCCTGAAAGCCTTTGCCTTCTGTGTGGCCACCTCGCTGACC c.1080
R D L V N I G L K A F A F C V A T S L T p.360
. . . . . . g.21793
CTGCTGACCGTGGCGGCTGGCTGGCTCTTCTACCGACCCCTGTGGGCCCTCCTCATTGCC c.1140
L L T V A A G W L F Y R P L W A L L I A p.380
. . . . . . g.21853
GGCCTGGCCCTTGTGCCCATCCTTGTTGCTCGGACACGGGTGCCAGCCAAAAAGTTGGAG c.1200
G L A L V P I L V A R T R V P A K K L E p.400
g.21856
TGA c.1203
X p.400
. . . . . . g.21916
aaagaccctggcacccgcccgacacctgcgtgagccctaggatccaggtcctctctcacc c.*60
. . . . . . g.21976
tctgacccagctccatgccagagcaggagccccggtcaattttggactctgcactccctc c.*120
. . . . . . g.22036
tcctcttcaggggccagacttggcagcatgtgcaccaggttggtgttcaccagctcatgt c.*180
. . . . . . g.22096
cttccccacatctcttcttgccagtaagcagctttggtgggcagcagcagctcatgaatg c.*240
. . . . . . g.22156
gcaagctgacagcttctcctgctgtttccttcctctcttggactgagtgggtacggccag c.*300
. . . . . . g.22216
ccactcagcccattggcagctgacaacgcagacacgctctacggaggcctgctgataaag c.*360
. . . . . . g.22276
ggctcagccttgccgtgtgctgcttctcatcactgcacacaagtgccatgctttgccacc c.*420
. . . . . . g.22336
accaccaagcacatctgtgatcctgaagggcggccgttagtcattactgctgagtcctgg c.*480
. . . . . . g.22396
gtcaccagcagacacactgggcatggacccctcaaagcaggcacacccaaaacacaagtc c.*540
. . . . . . g.22456
tgtggctagaacctgatgtggtgtttaaaagagaagaaacactgaagatgtcctgaggag c.*600
. . . . . . g.22516
aaaagctggacatatactgggcttcacacttatcttatggcttggcagaatctttgtagt c.*660
. . . . . . g.22576
gtgtgggatctctgaaggccctatttaagtttttcttcgttactttgctgcttcatgtgt c.*720
. . . . . . g.22636
actttcctaccccaagaggaagttttctgaaataagatttaaaaacaaaacaaaaaaaac c.*780
. . . . . . g.22696
acttaatatttcagactgttacaggaaacaccctttagtctgtcagttgaattcagagca c.*840
. . . . . . g.22756
ctgaaaggtgttaaattggggtatgtggtttgattgataaaaagttacctctcagtattt c.*900
. . . . . . g.22816
tgtgtcactgagaagctttacaatggatgcttttgaaacaagtatcagcaaaaggatttg c.*960
. . . . . . g.22876
ttttcactctgggaggagagggtggagaaagcacttgctttcatcctctggcatcggaaa c.*1020
. . . . . . g.22936
ctcccctatgcacttgaagatggtttaaaagattaaagaaacgattaagagaaaaggttg c.*1080
. . . . . . g.22996
gaagctttatactaaatgggctccttcatggtgacgccccgtcaaccacaatcaagaact c.*1140
. . . . . . g.23056
gaggcctgaggctggttgtacaatgcccacgcctgcctggctgctttcacctgggagtgc c.*1200
. . . . . . g.23116
tttcgatgtgggcacctgggcttcctagggctgcttctgagtggttctttcacgtgttgt c.*1260
. . . . . . g.23176
gtccatagctttagtcttcctaaataagatccacccacacctaagtcacagaatttctaa c.*1320
. . . . . . g.23236
gttccccaactactctcacacccttttaaagataaagtatgttgtaaccaggatgtctta c.*1380
. . . . . . g.23296
aatgattctttgtgtaccttttctgtcatattcagaaaccgttttgtgcctgctgggagt c.*1440
. . . . . . g.23356
aattcctttagcaattaagtatttggtagctgaataaggggtcagaacttctgaaaccag c.*1500
. . . . . . g.23416
agatctgtaatcatctctattggcctggggtgcctgtgctataaatgagtttcttcacat c.*1560
. . . . . . g.23476
gaaaaacacagccagcccaagatgacttatctgggtttaggattcaatagtattcactaa c.*1620
. . . . . . g.23536
ctgcttattacatgagcaatttcatcaaatctccaaactcttaaaggatgctttcggaaa c.*1680
. . . . . . g.23596
acacgctgtatacctagatgatgactaaatgcaaaatccttgggctttggtttttttcta c.*1740
. . . . . . g.23656
gtaaggattttaaataactgccgacttcaaaagtgttcttaaaacgaaagataatgttaa c.*1800
. . . . . . g.23716
gaaaaatttgaaagctttggaaaaccaaatttgtaatatcattgtattttttattaaaag c.*1860
. . g.23741
ttttgtaataaatttctaaattatc c.*1885
(downstream sequence)
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