Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320471_159320472del , CM000667.2:g.159320471_159320472del | GRCh38 |
| NC_000005.9:g.158747479_158747480del , CM000667.1:g.158747479_158747480del | GRCh37 |
| NC_000005.8:g.158680057_158680058del | NCBI36 |
| NG_009618.1:g.15008_15009del , LRG_71:g.15008_15009del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-94_-93del | ENSP00000512849.1:n.-94_-93del | |
| ENST00000696751.1:c.*32_*33del | ENSP00000512850.1:n.*32_*33del | |
| ENST00000231228.3:c.537_538del MANE Select | ENSP00000231228.2:p.Arg179SerfsTer9 | |
| ENST00000231228.2:c.537_538del | ENSP00000231228.2:p.Arg179SerfsTer9 | |
| NM_002187.2:c.537_538del , LRG_71t1:c.537_538del | NP_002178.2:p.Arg179SerfsTer9 | |
| XR_001742945.1:n.22_23del | ||
| NM_002187.3:c.537_538del MANE Select | NP_002178.2:p.Arg179SerfsTer9 |