Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981366_149981369del , CM000667.2:g.149981366_149981369del | GRCh38 |
| NC_000005.9:g.149360929_149360932del , CM000667.1:g.149360929_149360932del | GRCh37 |
| NC_000005.8:g.149341122_149341125del | NCBI36 |
| NG_007147.2:g.22484_22487del , LRG_684:g.22484_22487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1773_1776del MANE Select | ENSP00000286298.4:p.Asn591LysfsTer17 | |
| ENST00000286298.4:c.1773_1776del | ENSP00000286298.4:p.Asn591LysfsTer17 | |
| ENST00000503336.1:c.372+3015_372+3018del | ENSP00000426053.1:n.372+3015_372+3018del | |
| NM_000112.3:c.1773_1776del , LRG_684t1:c.1773_1776del | NP_000103.2:p.Asn591LysfsTer17 | |
| XM_017009191.2:c.1773_1776del | XP_016864680.1:p.Asn591LysfsTer17 | |
| NM_000112.4:c.1773_1776del MANE Select | NP_000103.2:p.Asn591LysfsTer17 |