Linked Data
dbSNP Id:
rs1166175915
gnomAD v2:
1-204159886-TC-T
gnomAD v3:
1-204190758-TC-T
gnomAD v4:
1-204190758-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204190762del , CM000663.2:g.204190762del | GRCh38 |
| NC_000001.10:g.204159890del , CM000663.1:g.204159890del | GRCh37 |
| NC_000001.9:g.202426513del | NCBI36 |
| NG_032151.1:g.10733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367194.5:c.142del MANE Select | ENSP00000356162.4:p.Glu48SerfsTer17 | |
| ENST00000367194.4:c.142del | ENSP00000356162.4:p.Glu48SerfsTer17 | |
| ENST00000625357.1:c.142del | ENSP00000485957.1:p.Glu48SerfsTer17 | |
| NM_002256.3:c.142del | NP_002247.3:p.Glu48SerfsTer17 | |
| XM_011509525.1:c.142del | XP_011507827.1:p.Glu48SerfsTer17 | |
| NM_002256.4:c.142del MANE Select | NP_002247.3:p.Glu48SerfsTer17 |