Linked Data
dbSNP Id:
rs1565365579
gnomAD v2:
11-71906723-GGT-G
gnomAD v4:
11-72195679-GGT-G
MyVariant Identifiers:
chr11:g.71906724_71906725del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72195681_72195682del , CM000673.2:g.72195681_72195682del | GRCh38 |
| NC_000011.9:g.71906725_71906726del , CM000673.1:g.71906725_71906726del | GRCh37 |
| NC_000011.8:g.71584373_71584374del | NCBI36 |
| NG_015863.1:g.11124_11125del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.427_428del | ENSP00000308137.4:p.Trp143GlyfsTer24 | |
| ENST00000393676.5:c.427_428del MANE Select | ENSP00000377281.3:p.Trp143GlyfsTer24 | |
| ENST00000675784.1:c.427_428del | ENSP00000502440.1:p.Trp143GlyfsTer24 | |
| ENST00000312293.8:c.427_428del | ENSP00000308137.4:p.Trp143GlyfsTer24 | |
| ENST00000393676.3:c.427_428del | ENSP00000377281.3:p.Trp143GlyfsTer24 | |
| ENST00000393679.5:c.427_428del | ENSP00000377284.1:p.Trp143GlyfsTer24 | |
| ENST00000393681.6:c.427_428del | ENSP00000377286.2:p.Trp143GlyfsTer24 | |
| NM_000802.3:c.427_428del | NP_000793.1:p.Trp143GlyfsTer24 | |
| NM_016724.2:c.427_428del | NP_057936.1:p.Trp143GlyfsTer24 | |
| NM_016725.2:c.427_428del | NP_057937.1:p.Trp143GlyfsTer24 | |
| NM_016729.2:c.427_428del | NP_057941.1:p.Trp143GlyfsTer24 | |
| NM_016729.3:c.427_428del MANE Select | NP_057941.1:p.Trp143GlyfsTer24 | |
| NM_016724.3:c.427_428del | NP_057936.1:p.Trp143GlyfsTer24 | |
| NM_016725.3:c.427_428del | NP_057937.1:p.Trp143GlyfsTer24 |