Linked Data
dbSNP Id:
rs770873120
ExAC:
12:53045777 G / GCCA
gnomAD v2:
12-53045777-G-GCCA
gnomAD v4:
12-52651993-G-GCCA
MyVariant Identifiers:
chr12:g.53045777_53045778insCCA (hg19)
chr12:g.52651993_52651994insCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652003_52652005dup , CM000674.2:g.52652003_52652005dup | GRCh38 |
| NC_000012.11:g.53045787_53045789dup , CM000674.1:g.53045787_53045789dup | GRCh37 |
| NC_000012.10:g.51332054_51332056dup | NCBI36 |
| NG_008296.1:g.5180_5182dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.147_149dup MANE Select | ENSP00000310861.3:p.Gly50_Gly51insGly | |
| ENST00000309680.3:c.147_149dup | ENSP00000310861.3:p.Gly50_Gly51insGly | |
| NM_000423.2:c.147_149dup | NP_000414.2:p.Gly50_Gly51insGly | |
| NM_000423.3:c.147_149dup MANE Select | NP_000414.2:p.Gly50_Gly51insGly |