Linked Data
dbSNP Id:
rs749955088
gnomAD v2:
X-136649009-C-CGCT
gnomAD v3:
X-137566850-C-CGCT
gnomAD v4:
X-137566850-C-CGCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566853_137566855dup , CM000685.2:g.137566853_137566855dup | GRCh38 |
| NC_000023.10:g.136649012_136649014dup , CM000685.1:g.136649012_136649014dup | GRCh37 |
| NC_000023.9:g.136476678_136476680dup | NCBI36 |
| NG_008115.1:g.5667_5669dup | |
| NG_008115.2:g.5727_5729dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.162_164dup MANE Select | ENSP00000287538.5:p.Ala55_Phe56insAla | |
| ENST00000287538.9:c.162_164dup | ENSP00000287538.5:p.Ala55_Phe56insAla | |
| ENST00000370606.3:c.162_164dup | ENSP00000359638.3:p.Ala55_Phe56insAla | |
| NM_003413.3:c.162_164dup | NP_003404.1:p.Ala55_Phe56insAla | |
| NM_001330661.1:c.162_164dup | NP_001317590.1:p.Ala55_Phe56insAla | |
| NM_003413.4:c.162_164dup MANE Select | NP_003404.1:p.Ala55_Phe56insAla |