Linked Data
dbSNP Id:
rs1194053613
gnomAD v3:
3-165829671-T-TGGA
gnomAD v4:
3-165829671-T-TGGA
MyVariant Identifiers:
chr3:g.165547459_165547460insGGA (hg19)
chr3:g.165829671_165829672insGGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829675_165829677dup , CM000665.2:g.165829675_165829677dup | GRCh38 |
| NC_000003.11:g.165547463_165547465dup , CM000665.1:g.165547463_165547465dup | GRCh37 |
| NC_000003.10:g.167030157_167030159dup | NCBI36 |
| NG_009031.1:g.12792_12794dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1360_1362dup MANE Select | ENSP00000264381.3:p.Ser454_Lys455insSer | |
| ENST00000264381.7:c.1360_1362dup | ENSP00000264381.3:p.Ser454_Lys455insSer | |
| ENST00000479451.5:c.107+7640_107+7642dup | ENSP00000418325.1:n.107+7640_107+7642dup | |
| ENST00000482958.1:c.1360_1362dup | ENSP00000419804.1:p.Ser454_Lys455insSer | |
| ENST00000488954.1:c.107+7640_107+7642dup | ENSP00000418504.1:n.107+7640_107+7642dup | |
| ENST00000497011.5:c.1360_1362dup | ENSP00000419505.1:p.Ser454_Lys455insSer | |
| NM_000055.2:c.1360_1362dup | NP_000046.1:p.Ser454_Lys455insSer | |
| XM_005247685.1:c.1483_1485dup | XP_005247742.1:p.Ser495_Lys496insSer | |
| NM_000055.3:c.1360_1362dup | NP_000046.1:p.Ser454_Lys455insSer | |
| NR_137635.1:n.159+7640_159+7642dup | ||
| NR_137636.1:n.1527_1529dup | ||
| NM_000055.4:c.1360_1362dup MANE Select | NP_000046.1:p.Ser454_Lys455insSer | |
| NR_137635.2:n.110+7640_110+7642dup | ||
| NR_137636.2:n.1478_1480dup |