Linked Data
dbSNP Id:
rs766950526
ExAC:
X:136649006 CGCCGCT / C
gnomAD v2:
X-136649006-CGCCGCT-C
gnomAD v3:
X-137566847-CGCCGCT-C
gnomAD v4:
X-137566847-CGCCGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566851_137566856del , CM000685.2:g.137566851_137566856del | GRCh38 |
| NC_000023.10:g.136649010_136649015del , CM000685.1:g.136649010_136649015del | GRCh37 |
| NC_000023.9:g.136476676_136476681del | NCBI36 |
| NG_008115.1:g.5665_5670del | |
| NG_008115.2:g.5725_5730del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.160_165del MANE Select | ENSP00000287538.5:p.Ala54_Ala55del | |
| ENST00000287538.9:c.160_165del | ENSP00000287538.5:p.Ala54_Ala55del | |
| ENST00000370606.3:c.160_165del | ENSP00000359638.3:p.Ala54_Ala55del | |
| NM_003413.3:c.160_165del | NP_003404.1:p.Ala54_Ala55del | |
| NM_001330661.1:c.160_165del | NP_001317590.1:p.Ala54_Ala55del | |
| NM_003413.4:c.160_165del MANE Select | NP_003404.1:p.Ala54_Ala55del |