Linked Data
dbSNP Id:
rs771705288
gnomAD v2:
19-46307683-CCTGCGTGG-C
gnomAD v3:
19-45804425-CCTGCGTGG-C
gnomAD v4:
19-45804425-CCTGCGTGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45804427_45804434del , CM000681.2:g.45804427_45804434del | GRCh38 |
| NC_000019.9:g.46307685_46307692del , CM000681.1:g.46307685_46307692del | GRCh37 |
| NC_000019.8:g.50999525_50999532del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221538.8:c.1472_1479del MANE Select | ENSP00000221538.2:p.Ala491GlyfsTer10 | |
| ENST00000221538.7:c.1472_1479del | ENSP00000221538.2:p.Ala491GlyfsTer10 | |
| ENST00000597055.1:c.1472_1479del | ENSP00000472630.1:p.Ala491GlyfsTer10 | |
| ENST00000600188.5:c.680_687del | ENSP00000471559.1:p.Ala227GlyfsTer10 | |
| NM_030785.3:c.1472_1479del | NP_110412.1:p.Ala491GlyfsTer10 | |
| XM_011527351.1:c.1472_1479del | XP_011525653.1:p.Ala491GlyfsTer10 | |
| XM_011527351.2:c.1472_1479del | XP_011525653.1:p.Ala491GlyfsTer10 | |
| NM_030785.4:c.1472_1479del MANE Select | NP_110412.1:p.Ala491GlyfsTer10 |