Linked Data
dbSNP Id:
rs199422135
ExAC:
1:197112661 CAG / C
gnomAD v2:
1-197112661-CAG-C
gnomAD v4:
1-197143531-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197143536_197143537del , CM000663.2:g.197143536_197143537del | GRCh38 |
| NC_000001.10:g.197112666_197112667del , CM000663.1:g.197112666_197112667del | GRCh37 |
| NC_000001.9:g.195379289_195379290del | NCBI36 |
| NG_015867.1:g.8162_8163del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367409.9:c.719_720del MANE Select | ENSP00000356379.4:p.Ser240CysfsTer16 | |
| ENST00000679766.1:n.936_937del | ||
| ENST00000680265.1:c.719_720del | ENSP00000505384.1:p.Ser240CysfsTer16 | |
| ENST00000680710.1:c.719_720del | ENSP00000506676.1:p.Ser240CysfsTer16 | |
| ENST00000681879.1:c.719_720del | ENSP00000505363.1:p.Ser240CysfsTer16 | |
| ENST00000294732.11:c.719_720del | ENSP00000294732.7:p.Ser240CysfsTer16 | |
| ENST00000367409.8:c.719_720del | ENSP00000356379.4:p.Ser240CysfsTer16 | |
| ENST00000612785.1:c.561+158_561+159del | ENSP00000479244.1:n.561+158_561+159del | |
| NM_001206846.1:c.719_720del | NP_001193775.1:p.Ser240CysfsTer16 | |
| NM_018136.4:c.719_720del | NP_060606.3:p.Ser240CysfsTer16 | |
| NM_018136.5:c.719_720del MANE Select | NP_060606.3:p.Ser240CysfsTer16 | |
| NM_001206846.2:c.719_720del | NP_001193775.1:p.Ser240CysfsTer16 |