Linked Data
dbSNP Id:
rs763329644
ExAC:
3:165547434 C / CATAG
gnomAD v2:
3-165547434-C-CATAG
gnomAD v4:
3-165829646-C-CATAG
MyVariant Identifiers:
chr3:g.165547434_165547435insATAG (hg19)
chr3:g.165829646_165829647insATAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829646_165829647insATAG , CM000665.2:g.165829646_165829647insATAG | GRCh38 |
| NC_000003.11:g.165547434_165547435insATAG , CM000665.1:g.165547434_165547435insATAG | GRCh37 |
| NC_000003.10:g.167030128_167030129insATAG | NCBI36 |
| NG_009031.1:g.12819_12820insCTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1387_1388insCTAT MANE Select | ENSP00000264381.3:p.Gly463AlafsTer8 | |
| ENST00000264381.7:c.1387_1388insCTAT | ENSP00000264381.3:p.Gly463AlafsTer8 | |
| ENST00000479451.5:c.107+7667_107+7668insCTAT | ENSP00000418325.1:n.107+7667_107+7668insCTAT | |
| ENST00000482958.1:c.1387_1388insCTAT | ENSP00000419804.1:p.Gly463AlafsTer8 | |
| ENST00000488954.1:c.107+7667_107+7668insCTAT | ENSP00000418504.1:n.107+7667_107+7668insCTAT | |
| ENST00000497011.5:c.1387_1388insCTAT | ENSP00000419505.1:p.Gly463AlafsTer8 | |
| NM_000055.2:c.1387_1388insCTAT | NP_000046.1:p.Gly463AlafsTer8 | |
| XM_005247685.1:c.1510_1511insCTAT | XP_005247742.1:p.Gly504AlafsTer8 | |
| NM_000055.3:c.1387_1388insCTAT | NP_000046.1:p.Gly463AlafsTer8 | |
| NR_137635.1:n.159+7667_159+7668insCTAT | ||
| NR_137636.1:n.1554_1555insCTAT | ||
| NM_000055.4:c.1387_1388insCTAT MANE Select | NP_000046.1:p.Gly463AlafsTer8 | |
| NR_137635.2:n.110+7667_110+7668insCTAT | ||
| NR_137636.2:n.1505_1506insCTAT |