Linked Data
gnomAD v4:
1-171652473-ATCGGCCAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652476_171652483del , CM000663.2:g.171652476_171652483del | GRCh38 |
| NC_000001.10:g.171621616_171621623del , CM000663.1:g.171621616_171621623del | GRCh37 |
| NC_000001.9:g.169888239_169888246del | NCBI36 |
| NG_008859.1:g.5153_5160del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.131_138del MANE Select | ENSP00000037502.5:p.Ser44MetfsTer12 | |
| ENST00000638471.1:c.130+1_130+8del | ||
| ENST00000037502.10:c.131_138del | ENSP00000037502.5:p.Ser44MetfsTer12 | |
| ENST00000614688.1:c.131_138del | ENSP00000478680.1:p.Ser44MetfsTer12 | |
| NM_000261.1:c.131_138del | NP_000252.1:p.Ser44MetfsTer12 | |
| NM_000261.2:c.131_138del MANE Select | NP_000252.1:p.Ser44MetfsTer12 |