Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977929del , CM000667.2:g.149977929del | GRCh38 |
| NC_000005.9:g.149357492del , CM000667.1:g.149357492del | GRCh37 |
| NC_000005.8:g.149337685del | NCBI36 |
| NG_007147.2:g.19047del , LRG_684:g.19047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.509del | ||
| ENST00000286298.5:c.277del MANE Select | ENSP00000286298.4:p.Leu93PhefsTer12 | |
| ENST00000286298.4:c.277del | ENSP00000286298.4:p.Leu93PhefsTer12 | |
| NM_000112.3:c.277del , LRG_684t1:c.277del | NP_000103.2:p.Leu93PhefsTer12 | |
| XM_017009191.2:c.277del | XP_016864680.1:p.Leu93PhefsTer12 | |
| NM_000112.4:c.277del MANE Select | NP_000103.2:p.Leu93PhefsTer12 |