Linked Data
dbSNP Id:
rs1414914037
gnomAD v2:
X-140983505-G-GGGGGAGGGGTGGA
gnomAD v3:
X-141895719-G-GGGGGAGGGGTGGA
gnomAD v4:
X-141895719-G-GGGGGAGGGGTGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.141895729_141895741dup , CM000685.2:g.141895729_141895741dup | GRCh38 |
| NC_000023.10:g.140983515_140983527dup , CM000685.1:g.140983515_140983527dup | GRCh37 |
| NC_000023.9:g.140811181_140811193dup | NCBI36 |
| NG_013272.1:g.62414_62426dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298296.1:c.1123+170_1123+182dup MANE Select | ENSP00000298296.1:n.1123+170_1123+182dup | |
| ENST00000443323.2:c.-118-702_-118-690dup | ENSP00000438254.1:n.-118-702_-118-690dup | |
| ENST00000483584.5:n.288+322_288+334dup | ||
| ENST00000544766.5:c.-240+322_-240+334dup | ENSP00000440444.1:n.-240+322_-240+334dup | |
| NM_138702.1:c.1123+170_1123+182dup MANE Select | NP_619647.1:n.1123+170_1123+182dup | |
| NM_177456.2:c.-240+322_-240+334dup | NP_803251.1:n.-240+322_-240+334dup | |
| XM_011531267.1:c.-163+322_-163+334dup | XP_011529569.1:n.-163+322_-163+334dup | |
| XM_011531267.3:c.-163+322_-163+334dup | XP_011529569.1:n.-163+322_-163+334dup | |
| XM_017029265.2:c.-240+322_-240+334dup | XP_016884754.1:n.-240+322_-240+334dup |