Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991821_49991822del , CM000679.2:g.49991821_49991822del | GRCh38 |
| NC_000017.10:g.48069185_48069186del , CM000679.1:g.48069185_48069186del | GRCh37 |
| NC_000017.9:g.45424184_45424185del | NCBI36 |
| NG_023063.1:g.8405_8406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434704.2:c.561_562del MANE Select | ENSP00000389870.2:p.Tyr188GlnfsTer13 | |
| ENST00000512495.2:c.201_202del | ENSP00000449976.1:p.Tyr68GlnfsTer13 | |
| NM_005220.2:c.561_562del | NP_005211.1:p.Tyr188GlnfsTer13 | |
| XM_011524458.1:c.516+1580_516+1581del | XP_011522760.1:n.516+1580_516+1581del | |
| NM_005220.3:c.561_562del MANE Select | NP_005211.1:p.Tyr188GlnfsTer13 |