Linked Data
dbSNP Id:
rs760490483
ExAC:
5:33951621 AC / A
gnomAD v2:
5-33951621-AC-A
gnomAD v4:
5-33951516-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33951517del , CM000667.2:g.33951517del | GRCh38 |
| NC_000005.9:g.33951622del , CM000667.1:g.33951622del | GRCh37 |
| NC_000005.8:g.33987379del | NCBI36 |
| NG_011691.2:g.38159del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1156+37del MANE Select | ENSP00000296589.4:n.1156+37del | |
| ENST00000296589.8:c.1156+37del | ENSP00000296589.4:n.1156+37del | |
| ENST00000382102.7:c.1156+37del | ENSP00000371534.3:n.1156+37del | |
| ENST00000509381.1:c.*135del | ENSP00000421100.1:n.*135del | |
| ENST00000510600.1:c.631+37del | ENSP00000424010.1:n.631+37del | |
| NM_001012509.3:c.1156+37del | NP_001012527.1:n.1156+37del | |
| NM_001297417.2:c.*135del | NP_001284346.2:n.*135del | |
| NM_016180.4:c.1156+37del | NP_057264.3:n.1156+37del | |
| XM_011514051.1:c.754+37del | XP_011512353.1:n.754+37del | |
| XR_925620.1:n.1973+37del | ||
| NM_016180.5:c.1156+37del MANE Select | NP_057264.4:n.1156+37del | |
| NM_001012509.4:c.1156+37del | NP_001012527.2:n.1156+37del | |
| NM_001297417.3:c.*135del | NP_001284346.2:n.*135del | |
| NM_001297417.4:c.*135del | NP_001284346.2:n.*135del |