Linked Data
dbSNP Id:
rs1476948303
gnomAD v2:
12-7945648-C-CAAAAAAA
gnomAD v3:
12-7793052-C-CAAAAAAA
gnomAD v4:
12-7793052-C-CAAAAAAA
MyVariant Identifiers:
chr12:g.7945648_7945649insAAAAAAA (hg19)
chr12:g.7793052_7793053insAAAAAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793058_7793059insAAAAAAA , CM000674.2:g.7793058_7793059insAAAAAAA | GRCh38 |
| NC_000012.11:g.7945654_7945655insAAAAAAA , CM000674.1:g.7945654_7945655insAAAAAAA | GRCh37 |
| NC_000012.10:g.7836921_7836922insAAAAAAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.260_261insAAAAAAA MANE Select | ENSP00000229307.4:p.Glu88LysfsTer27 | |
| ENST00000229307.8:c.260_261insAAAAAAA | ENSP00000229307.4:p.Glu88LysfsTer27 | |
| ENST00000526286.1:c.260_261insAAAAAAA | ENSP00000435288.1:p.Glu88LysfsTer27 | |
| ENST00000526434.2:n.404_405insAAAAAAA | ||
| ENST00000541267.5:c.188_189insAAAAAAA | ENSP00000444434.1:p.Glu64LysfsTer27 | |
| NM_001297698.1:c.260_261insAAAAAAA | NP_001284627.1:p.Glu88LysfsTer27 | |
| NM_024865.3:c.260_261insAAAAAAA | NP_079141.2:p.Glu88LysfsTer27 | |
| XM_011520850.1:c.260_261insAAAAAAA | XP_011519152.1:p.Glu88LysfsTer27 | |
| XM_011520851.1:c.188_189insAAAAAAA | XP_011519153.1:p.Glu64LysfsTer27 | |
| XM_011520852.1:c.-113_-112insAAAAAAA | XP_011519154.1:n.-113_-112insAAAAAAA | |
| NM_024865.4:c.260_261insAAAAAAA MANE Select | NP_079141.2:p.Glu88LysfsTer27 | |
| NM_001297698.2:c.260_261insAAAAAAA | NP_001284627.1:p.Glu88LysfsTer27 |