Linked Data
dbSNP Id:
rs1568712470
gnomAD v2:
19-1223139-ACAT-A
gnomAD v4:
19-1223140-ACAT-A
MyVariant Identifiers:
chr19:g.1223140_1223142del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223145_1223147del , CM000681.2:g.1223145_1223147del | GRCh38 |
| NC_000019.9:g.1223144_1223146del , CM000681.1:g.1223144_1223146del | GRCh37 |
| NC_000019.8:g.1174144_1174146del | NCBI36 |
| NG_007460.2:g.38739_38741del , LRG_319:g.38739_38741del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1081_1083del | ENSP00000490268.2:p.Ile361del | |
| ENST00000585748.3:c.709_711del | ENSP00000477641.2:p.Ile237del | |
| ENST00000585851.2:c.907_909del | ENSP00000467912.2:p.Ile303del | |
| ENST00000326873.12:c.1081_1083del MANE Select | ENSP00000324856.6:p.Ile361del | |
| ENST00000652231.1:c.1081_1083del | ENSP00000498804.1:p.Ile361del | |
| ENST00000326873.11:c.1081_1083del | ENSP00000324856.6:p.Ile361del | |
| ENST00000586243.5:c.1081_1083del | ENSP00000467240.2:p.Ile361del | |
| ENST00000589152.5:n.1779_1781del | ||
| NM_000455.4:c.1081_1083del , LRG_319t1:c.1081_1083del | NP_000446.1:p.Ile361del | |
| XM_005259617.1:c.1081_1083del | XP_005259674.1:p.Ile361del | |
| XM_005259618.3:c.1081_1083del | XP_005259675.1:p.Ile361del | |
| XM_011528209.1:c.859_861del | XP_011526511.1:p.Ile287del | |
| XR_936204.1:n.1857_1859del | ||
| XM_005259617.3:c.1081_1083del | XP_005259674.1:p.Ile361del | |
| XM_011528209.2:c.859_861del | XP_011526511.1:p.Ile287del | |
| XR_001753738.2:n.1887_1889del | ||
| XR_001753739.1:n.1887_1889del | ||
| XR_001753740.2:n.1857_1859del | ||
| NM_000455.5:c.1081_1083del MANE Select | NP_000446.1:p.Ile361del |