Linked Data
dbSNP Id:
rs1214985711
gnomAD v3:
3-138945765-C-CCGG
gnomAD v4:
3-138945765-C-CCGG
MyVariant Identifiers:
chr3:g.138664607_138664608insCGG (hg19)
chr3:g.138945765_138945766insCGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945774_138945776dup , CM000665.2:g.138945774_138945776dup | GRCh38 |
| NC_000003.11:g.138664616_138664618dup , CM000665.1:g.138664616_138664618dup | GRCh37 |
| NC_000003.10:g.140147306_140147308dup | NCBI36 |
| NG_012454.1:g.6373_6375dup | |
| NG_029796.1:g.3541_3543dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.955_957dup MANE Select | ENSP00000497217.1:p.Pro319_Gly320insPro | |
| ENST00000330315.3:c.955_957dup | ENSP00000333188.3:p.Pro319_Gly320insPro | |
| NM_023067.3:c.955_957dup | NP_075555.1:p.Pro319_Gly320insPro | |
| NM_023067.4:c.955_957dup MANE Select | NP_075555.1:p.Pro319_Gly320insPro |