Linked Data
dbSNP Id:
rs764982994
gnomAD v2:
12-52314723-T-TGGGGGGGG
gnomAD v3:
12-51920939-T-TGGGGGGGG
gnomAD v4:
12-51920939-T-TGGGGGGGG
MyVariant Identifiers:
chr12:g.52314723_52314724insGGGGGGGG (hg19)
chr12:g.51920939_51920940insGGGGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920945_51920946insGGGGGGGG , CM000674.2:g.51920945_51920946insGGGGGGGG | GRCh38 |
| NC_000012.11:g.52314729_52314730insGGGGGGGG , CM000674.1:g.52314729_52314730insGGGGGGGG | GRCh37 |
| NC_000012.10:g.50600996_50600997insGGGGGGGG | NCBI36 |
| NG_009549.1:g.18528_18529insGGGGGGGG , LRG_543:g.18528_18529insGGGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551576.6:c.*52_*53insGGGGGGGG | ENSP00000455848.2:n.*52_*53insGGGGGGGG | |
| ENST00000388922.9:c.*52_*53insGGGGGGGG MANE Select | ENSP00000373574.4:n.*52_*53insGGGGGGGG | |
| ENST00000388922.8:c.*52_*53insGGGGGGGG | ENSP00000373574.4:n.*52_*53insGGGGGGGG | |
| ENST00000419526.6:c.*52_*53insGGGGGGGG | ENSP00000392492.2:n.*52_*53insGGGGGGGG | |
| ENST00000550683.5:c.*52_*53insGGGGGGGG | ENSP00000447884.1:n.*52_*53insGGGGGGGG | |
| NM_000020.2:c.*52_*53insGGGGGGGG , LRG_543t1:c.*52_*53insGGGGGGGG | NP_000011.2:n.*52_*53insGGGGGGGG | |
| NM_001077401.1:c.*52_*53insGGGGGGGG | NP_001070869.1:n.*52_*53insGGGGGGGG | |
| XM_005269235.2:c.*52_*53insGGGGGGGG | XP_005269292.1:n.*52_*53insGGGGGGGG | |
| XM_011539008.1:c.*52_*53insGGGGGGGG | XP_011537310.1:n.*52_*53insGGGGGGGG | |
| XM_024449279.1:c.*52_*53insGGGGGGGG | XP_024305047.1:n.*52_*53insGGGGGGGG | |
| NM_000020.3:c.*52_*53insGGGGGGGG MANE Select | NP_000011.2:n.*52_*53insGGGGGGGG | |
| NM_001077401.2:c.*52_*53insGGGGGGGG | NP_001070869.1:n.*52_*53insGGGGGGGG |