Linked Data
gnomAD v4:
7-17339843-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17339844del , CM000669.2:g.17339844del | GRCh38 |
| NC_000007.13:g.17379468del , CM000669.1:g.17379468del | GRCh37 |
| NC_000007.12:g.17345993del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.2019del MANE Select | ENSP00000242057.4:p.Asn673LysfsTer? | |
| ENST00000637807.1:c.1989del | ENSP00000490530.1:p.Asn663LysfsTer? | |
| ENST00000642825.1:c.1974del | ENSP00000495987.1:p.Asn658LysfsTer? | |
| ENST00000242057.8:c.2019del | ENSP00000242057.4:p.Asn673LysfsTer? | |
| ENST00000463496.1:c.2019del | ENSP00000436466.1:p.Asn673LysfsTer? | |
| NM_001621.4:c.2019del | NP_001612.1:p.Asn673LysfsTer? | |
| NM_001621.5:c.2019del MANE Select | NP_001612.1:p.Asn673LysfsTer? |