Linked Data
dbSNP Id:
rs759258384
gnomAD v2:
2-47300944-GCGAGGTGCTGCAGGCCCAGGGCCAGAA-G
gnomAD v3:
2-47073805-GCGAGGTGCTGCAGGCCCAGGGCCAGAA-G
gnomAD v4:
2-47073805-GCGAGGTGCTGCAGGCCCAGGGCCAGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47073811_47073837del , CM000664.2:g.47073811_47073837del | GRCh38 |
| NC_000002.11:g.47300950_47300976del , CM000664.1:g.47300950_47300976del | GRCh37 |
| NC_000002.10:g.47154454_47154480del | NCBI36 |
| NG_034143.1:g.162683_162709del | |
| NG_034143.2:g.162683_162709del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698500.1:n.4298_4324del (TTC7A) | ||
| ENST00000698503.1:n.2471_2497del (TTC7A) | ||
| ENST00000319190.11:c.2465_2491del (TTC7A) MANE Select | ENSP00000316699.5:p.Val822_Glu830del | |
| ENST00000651101.1:n.1063_1089del (TTC7A) | ||
| ENST00000651415.1:n.1256_1282del (TTC7A) | ||
| ENST00000652236.1:n.1166_1192del (TTC7A) | ||
| ENST00000652568.1:n.1138_1164del (TTC7A) | ||
| ENST00000319190.9:c.2465_2491del (TTC7A) | ENSP00000316699.5:p.Val822_Glu830del | |
| ENST00000394850.6:c.2537_2563del (TTC7A) | ENSP00000378320.2:p.Val846_Glu854del | |
| ENST00000409245.5:c.2363_2389del (TTC7A) | ENSP00000386307.1:p.Val788_Glu796del | |
| ENST00000409825.5:c.2413_2439del (TTC7A) | ||
| ENST00000422269.1:c.787-7695_787-7669del | ||
| ENST00000441914.5:c.2306_2332del (TTC7A) | ||
| ENST00000464527.2:n.399-7695_399-7669del (STPG4) | ||
| ENST00000482548.1:n.402-5276_402-5250del (STPG4) | ||
| ENST00000484061.5:n.1572_1598del (TTC7A) | ||
| ENST00000491786.5:n.1869_1895del (TTC7A) | ||
| ENST00000496939.1:n.416-26913_416-26887del (STPG4) | ||
| NM_001288951.1:c.2537_2563del (TTC7A) | NP_001275880.1:p.Val846_Glu854del | |
| NM_001288953.1:c.2363_2389del (TTC7A) | NP_001275882.1:p.Val788_Glu796del | |
| NM_001288955.1:c.1403_1429del (TTC7A) | NP_001275884.1:p.Val468_Glu476del | |
| NM_020458.3:c.2465_2491del (TTC7A) | NP_065191.2:p.Val822_Glu830del | |
| XM_005264439.2:c.2108_2134del (TTC7A) | XP_005264496.1:p.Val703_Glu711del | |
| XM_011532998.1:c.2108_2134del (TTC7A) | XP_011531300.1:p.Val703_Glu711del | |
| XM_011533000.1:c.1685_1711del (TTC7A) | XP_011531302.1:p.Val562_Glu570del | |
| XM_011533001.1:c.1418_1444del (TTC7A) | XP_011531303.1:p.Val473_Glu481del | |
| XM_005264439.4:c.2108_2134del (TTC7A) | XP_005264496.1:p.Val703_Glu711del | |
| XM_011532998.3:c.2108_2134del (TTC7A) | XP_011531300.1:p.Val703_Glu711del | |
| XM_011533000.3:c.1685_1711del (TTC7A) | XP_011531302.1:p.Val562_Glu570del | |
| XM_011533001.3:c.1418_1444del (TTC7A) | XP_011531303.1:p.Val473_Glu481del | |
| XM_017004524.1:c.2348_2374del (TTC7A) | XP_016860013.1:p.Val783_Glu791del | |
| XM_017004525.1:c.2297_2323del (TTC7A) | XP_016860014.1:p.Val766_Glu774del | |
| XM_017004526.1:c.2216_2242del (TTC7A) | XP_016860015.1:p.Val739_Glu747del | |
| XM_024453013.1:c.1430_1456del (TTC7A) | XP_024308781.1:p.Val477_Glu485del | |
| NM_020458.4:c.2465_2491del (TTC7A) MANE Select | NP_065191.2:p.Val822_Glu830del | |
| NM_001288951.2:c.2537_2563del (TTC7A) | NP_001275880.1:p.Val846_Glu854del | |
| NM_001288953.2:c.2363_2389del (TTC7A) | NP_001275882.1:p.Val788_Glu796del | |
| NM_001288955.2:c.1403_1429del (TTC7A) | NP_001275884.1:p.Val468_Glu476del |