Linked Data
gnomAD v4:
5-136046342-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046346_136046347del , CM000667.2:g.136046346_136046347del | GRCh38 |
| NC_000005.9:g.135382035_135382036del , CM000667.1:g.135382035_135382036del | GRCh37 |
| NC_000005.8:g.135409934_135409935del | NCBI36 |
| NG_012646.1:g.22452_22453del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.310_311del MANE Select | ENSP00000416330.2:p.Ser104LysfsTer27 | |
| ENST00000442011.6:c.310_311del | ENSP00000416330.2:p.Ser104LysfsTer27 | |
| ENST00000504185.5:n.467_468del | ||
| ENST00000506699.5:n.375_376del | ||
| ENST00000507018.5:c.227_228del | ||
| ENST00000515433.1:n.602_603del | ||
| NM_000358.2:c.310_311del | NP_000349.1:p.Ser104LysfsTer27 | |
| NM_000358.3:c.310_311del MANE Select | NP_000349.1:p.Ser104LysfsTer27 |