Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965587_37965588del , CM000670.2:g.37965587_37965588del | GRCh38 |
| NC_000008.10:g.37823105_37823106del , CM000670.1:g.37823105_37823106del | GRCh37 |
| NC_000008.9:g.37942262_37942263del | NCBI36 |
| NG_011936.1:g.6080_6081del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.883_884del MANE Select | ENSP00000343782.3:p.Gly295SerfsTer? | |
| ENST00000520341.2:n.1011_1012del | ||
| ENST00000647937.1:c.367_368del | ENSP00000497740.1:p.Gly123SerfsTer? | |
| ENST00000345060.4:c.883_884del | ENSP00000343782.3:p.Gly295SerfsTer? | |
| ENST00000520341.1:n.158_159del | ||
| ENST00000614635.1:c.883_884del | ENSP00000480325.1:p.Gly295SerfsTer? | |
| NM_000025.2:c.883_884del | NP_000016.1:p.Gly295SerfsTer? | |
| NM_000025.3:c.883_884del MANE Select | NP_000016.1:p.Gly295SerfsTer? |