Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94430293_94430296del , CM000669.2:g.94430293_94430296del | GRCh38 |
| NC_000007.13:g.94059605_94059608del , CM000669.1:g.94059605_94059608del | GRCh37 |
| NC_000007.12:g.93897541_93897544del | NCBI36 |
| NG_007405.1:g.40733_40736del , LRG_2:g.40733_40736del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.4001_4004del MANE Select | ENSP00000297268.6:p.Asn1334SerfsTer? | |
| ENST00000297268.10:c.4001_4004del | ENSP00000297268.6:p.Asn1334SerfsTer? | |
| ENST00000464916.1:n.1049_1052del | ||
| ENST00000481570.5:n.5598_5601del | ||
| ENST00000620463.1:c.3995_3998del | ENSP00000477719.1:p.Asn1332SerfsTer? | |
| NM_000089.3:c.4001_4004del , LRG_2t1:c.4001_4004del | NP_000080.2:p.Asn1334SerfsTer? | |
| NM_000089.4:c.4001_4004del MANE Select | NP_000080.2:p.Asn1334SerfsTer? |