Linked Data
ClinVar Variation Id:
156319
dbSNP Id:
rs75152012
ExAC:
4:74272435 CAT / C
gnomAD v2:
4-74272435-CAT-C
gnomAD v3:
4-73406718-CAT-C
gnomAD v4:
4-73406718-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406719_73406720del , CM000666.2:g.73406719_73406720del | GRCh38 |
| NC_000004.11:g.74272436_74272437del , CM000666.1:g.74272436_74272437del | GRCh37 |
| NC_000004.10:g.74491300_74491301del | NCBI36 |
| NG_009291.1:g.7465_7466del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.228_229del MANE Select | ENSP00000295897.4:p.Val78CysfsTer2 | |
| ENST00000295897.8:c.228_229del | ENSP00000295897.4:p.Val78CysfsTer2 | |
| ENST00000401494.7:c.137+1546_137+1547del | ENSP00000384695.3:n.137+1546_137+1547del | |
| ENST00000415165.6:c.137+1546_137+1547del | ENSP00000401820.2:n.137+1546_137+1547del | |
| ENST00000441319.5:c.234_235del | ENSP00000392541.1:p.Val80CysfsTer2 | |
| ENST00000476441.6:c.79+2313_79+2314del | ENSP00000423727.1:n.79+2313_79+2314del | |
| ENST00000503124.5:c.-11_-10del | ENSP00000421027.1:n.-11_-10del | |
| ENST00000509063.5:c.228_229del | ENSP00000422784.1:p.Val78CysfsTer2 | |
| ENST00000510166.5:n.264_265del | ||
| ENST00000514786.1:n.197_198del | ||
| ENST00000515133.5:n.269_270del | ||
| ENST00000621085.4:c.228_229del | ENSP00000483421.1:p.Val78CysfsTer2 | |
| ENST00000621628.4:c.228_229del | ENSP00000480485.1:p.Val78CysfsTer2 | |
| NM_000477.5:c.228_229del | NP_000468.1:p.Val78CysfsTer2 | |
| NM_000477.6:c.228_229del | NP_000468.1:p.Val78CysfsTer2 | |
| NM_000477.7:c.228_229del MANE Select | NP_000468.1:p.Val78CysfsTer2 |