Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479336_117479346del , CM000669.2:g.117479336_117479346del | GRCh38 |
| NC_000007.13:g.117119390_117119400del , CM000669.1:g.117119390_117119400del | GRCh37 |
| NC_000007.12:g.116906626_116906636del | NCBI36 |
| NG_016465.4:g.18553_18563del , LRG_663:g.18553_18563del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-433_-424+1del | ||
| ENST00000673785.1:c.-406+13505_-406+13515del | ENSP00000501235.1:n.-406+13505_-406+13515del | |
| ENST00000446805.1:c.-433_-424+1del | ||
| ENST00000546407.1:n.166+3528_166+3538del | ||
| XM_011515751.1:c.134_143+1del | ||
| XM_011515752.1:c.134_143+1del | ||
| XM_011515753.1:c.-433_-424+1del | ||
| XM_011515754.1:c.-761_-752+1del |