Linked Data
gnomAD v4:
3-165830407-AT-A
COSMIC:
COSM1420412
MyVariant Identifiers:
chr3:g.165548196del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830414del , CM000665.2:g.165830414del | GRCh38 |
| NC_000003.11:g.165548202del , CM000665.1:g.165548202del | GRCh37 |
| NC_000003.10:g.167030896del | NCBI36 |
| NG_009031.1:g.12058del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.626del MANE Select | ENSP00000264381.3:p.Asn209IlefsTer2 | |
| ENST00000264381.7:c.626del | ENSP00000264381.3:p.Asn209IlefsTer2 | |
| ENST00000479451.5:c.107+6906del | ENSP00000418325.1:n.107+6906del | |
| ENST00000482958.1:c.626del | ENSP00000419804.1:p.Asn209IlefsTer2 | |
| ENST00000488954.1:c.107+6906del | ENSP00000418504.1:n.107+6906del | |
| ENST00000497011.5:c.626del | ENSP00000419505.1:p.Asn209IlefsTer2 | |
| NM_000055.2:c.626del | NP_000046.1:p.Asn209IlefsTer2 | |
| XM_005247685.1:c.749del | XP_005247742.1:p.Asn250IlefsTer2 | |
| NM_000055.3:c.626del | NP_000046.1:p.Asn209IlefsTer2 | |
| NR_137635.1:n.159+6906del | ||
| NR_137636.1:n.793del | ||
| NM_000055.4:c.626del MANE Select | NP_000046.1:p.Asn209IlefsTer2 | |
| NR_137635.2:n.110+6906del | ||
| NR_137636.2:n.744del |