Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977907del , CM000667.2:g.149977907del | GRCh38 |
| NC_000005.9:g.149357470del , CM000667.1:g.149357470del | GRCh37 |
| NC_000005.8:g.149337663del | NCBI36 |
| NG_007147.2:g.19025del , LRG_684:g.19025del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.255del MANE Select | NP_000103.2:p.Asn87IlefsTer2 |
| ENST00000286298.5:c.255del MANE Select | ENSP00000286298.4:p.Asn87IlefsTer2 |
| NM_000112.3:c.255del , LRG_684t1:c.255del | NP_000103.2:p.Asn87IlefsTer2 |
| ENST00000286298.4:c.255del | ENSP00000286298.4:p.Asn87IlefsTer2 |
| ENST00000690410.1:n.487del | |
| XM_017009191.2:c.255del | XP_016864680.1:p.Asn87IlefsTer2 |