Linked Data
dbSNP Id:
rs769747342
gnomAD v2:
4-74272265-AC-A
gnomAD v3:
4-73406548-AC-A
gnomAD v4:
4-73406548-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406549del , CM000666.2:g.73406549del | GRCh38 |
| NC_000004.11:g.74272266del , CM000666.1:g.74272266del | GRCh37 |
| NC_000004.10:g.74491130del | NCBI36 |
| NG_009291.1:g.7295del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.138-80del MANE Select | ENSP00000295897.4:n.138-80del | |
| ENST00000295897.8:c.138-80del | ENSP00000295897.4:n.138-80del | |
| ENST00000401494.7:c.137+1376del | ENSP00000384695.3:n.137+1376del | |
| ENST00000415165.6:c.137+1376del | ENSP00000401820.2:n.137+1376del | |
| ENST00000441319.5:c.144-80del | ENSP00000392541.1:n.144-80del | |
| ENST00000476441.6:c.79+2143del | ENSP00000423727.1:n.79+2143del | |
| ENST00000503124.5:c.-101-80del | ENSP00000421027.1:n.-101-80del | |
| ENST00000509063.5:c.138-80del | ENSP00000422784.1:n.138-80del | |
| ENST00000510166.5:n.174-80del | ||
| ENST00000514786.1:n.107-80del | ||
| ENST00000515133.5:n.179-80del | ||
| ENST00000621085.4:c.138-80del | ENSP00000483421.1:n.138-80del | |
| ENST00000621628.4:c.138-80del | ENSP00000480485.1:n.138-80del | |
| NM_000477.5:c.138-80del | NP_000468.1:n.138-80del | |
| NM_000477.6:c.138-80del | NP_000468.1:n.138-80del | |
| NM_000477.7:c.138-80del MANE Select | NP_000468.1:n.138-80del |