Linked Data
dbSNP Id:
rs1750863082
gnomAD v2:
5-136975415-AGTGTGC-A
gnomAD v3:
5-137639726-AGTGTGC-A
gnomAD v4:
5-137639726-AGTGTGC-A
MyVariant Identifiers:
chr5:g.136975416_136975424delinsAGG (hg19)
chr5:g.137639727_137639735delinsAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639727_137639732del , CM000667.2:g.137639727_137639732del | GRCh38 |
| NC_000005.9:g.136975416_136975421del , CM000667.1:g.136975416_136975421del | GRCh37 |
| NC_000005.8:g.137003315_137003320del | NCBI36 |
| NG_032569.1:g.101359_101364del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1021+128_1021+133del MANE Select | ENSP00000312397.4:n.1021+128_1021+133del | |
| ENST00000309755.8:c.1021+128_1021+133del | ENSP00000312397.4:n.1021+128_1021+133del | |
| ENST00000502381.1:n.608+128_608+133del | ||
| ENST00000504208.5:c.*335-11295_*335-11290del | ENSP00000423585.1:n.*335-11295_*335-11290del | |
| ENST00000505853.1:c.901+128_901+133del | ENSP00000426173.1:n.901+128_901+133del | |
| ENST00000506491.5:c.775+128_775+133del | ENSP00000424828.1:n.775+128_775+133del | |
| ENST00000506873.5:n.646+128_646+133del | ||
| ENST00000508657.5:c.925+128_925+133del | ENSP00000422099.1:n.925+128_925+133del | |
| NM_001257194.1:c.925+128_925+133del | NP_001244123.1:n.925+128_925+133del | |
| NM_001257195.1:c.775+128_775+133del | NP_001244124.1:n.775+128_775+133del | |
| NM_017415.2:c.1021+128_1021+133del | NP_059111.2:n.1021+128_1021+133del | |
| NM_017415.3:c.1021+128_1021+133del MANE Select | NP_059111.2:n.1021+128_1021+133del | |
| NM_001257195.2:c.775+128_775+133del | NP_001244124.1:n.775+128_775+133del |