Linked Data
dbSNP Id:
rs761647766
gnomAD v2:
12-52314715-T-TGGGGGGGGGG
gnomAD v3:
12-51920931-T-TGGGGGGGGGG
gnomAD v4:
12-51920931-T-TGGGGGGGGGG
MyVariant Identifiers:
chr12:g.52314716_52314717insGGGGGGGGGG (hg19)
chr12:g.51920932_51920933insGGGGGGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920938_51920939insGGGGGGGGGG , CM000674.2:g.51920938_51920939insGGGGGGGGGG | GRCh38 |
| NC_000012.11:g.52314722_52314723insGGGGGGGGGG , CM000674.1:g.52314722_52314723insGGGGGGGGGG | GRCh37 |
| NC_000012.10:g.50600989_50600990insGGGGGGGGGG | NCBI36 |
| NG_009549.1:g.18521_18522insGGGGGGGGGG , LRG_543:g.18521_18522insGGGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.*45_*46insGGGGGGGGGG | ENSP00000455848.2:n.*45_*46insGGGGGGGGGG | |
| ENST00000388922.9:c.*45_*46insGGGGGGGGGG MANE Select | ENSP00000373574.4:n.*45_*46insGGGGGGGGGG | |
| ENST00000388922.8:c.*45_*46insGGGGGGGGGG | ENSP00000373574.4:n.*45_*46insGGGGGGGGGG | |
| ENST00000419526.6:c.*45_*46insGGGGGGGGGG | ENSP00000392492.2:n.*45_*46insGGGGGGGGGG | |
| ENST00000550683.5:c.*45_*46insGGGGGGGGGG | ENSP00000447884.1:n.*45_*46insGGGGGGGGGG | |
| NM_000020.2:c.*45_*46insGGGGGGGGGG , LRG_543t1:c.*45_*46insGGGGGGGGGG | NP_000011.2:n.*45_*46insGGGGGGGGGG | |
| NM_001077401.1:c.*45_*46insGGGGGGGGGG | NP_001070869.1:n.*45_*46insGGGGGGGGGG | |
| XM_005269235.2:c.*45_*46insGGGGGGGGGG | XP_005269292.1:n.*45_*46insGGGGGGGGGG | |
| XM_011539008.1:c.*45_*46insGGGGGGGGGG | XP_011537310.1:n.*45_*46insGGGGGGGGGG | |
| XM_024449279.1:c.*45_*46insGGGGGGGGGG | XP_024305047.1:n.*45_*46insGGGGGGGGGG | |
| NM_000020.3:c.*45_*46insGGGGGGGGGG MANE Select | NP_000011.2:n.*45_*46insGGGGGGGGGG | |
| NM_001077401.2:c.*45_*46insGGGGGGGGGG | NP_001070869.1:n.*45_*46insGGGGGGGGGG |