Linked Data
dbSNP Id:
rs1252003533
gnomAD v3:
15-71811450-TGCCCTGGCCCA-T
gnomAD v4:
15-71811450-TGCCCTGGCCCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811457_71811467del , CM000677.2:g.71811457_71811467del | GRCh38 |
| NC_000015.9:g.72103797_72103807del , CM000677.1:g.72103797_72103807del | GRCh37 |
| NC_000015.8:g.69890851_69890861del | NCBI36 |
| NG_009113.2:g.5903_5913del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.119-26_119-16del MANE Select | ENSP00000482504.1:n.119-26_119-16del | |
| ENST00000617575.4:c.119-26_119-16del | ENSP00000482504.1:n.119-26_119-16del | |
| ENST00000621098.1:c.119-26_119-16del | ENSP00000479962.1:n.119-26_119-16del | |
| ENST00000621736.4:c.-146-26_-146-16del | ENSP00000479254.1:n.-146-26_-146-16del | |
| NM_014249.3:c.119-26_119-16del | NP_055064.1:n.119-26_119-16del | |
| NM_016346.3:c.119-26_119-16del | NP_057430.1:n.119-26_119-16del | |
| XM_011521146.1:c.-146-26_-146-16del | XP_011519448.1:n.-146-26_-146-16del | |
| NM_014249.4:c.119-26_119-16del MANE Select | NP_055064.1:n.119-26_119-16del | |
| NM_016346.4:c.119-26_119-16del | NP_057430.1:n.119-26_119-16del |