Linked Data
dbSNP Id:
rs1490400109
gnomAD v2:
7-117119637-CG-C
gnomAD v3:
7-117479583-CG-C
gnomAD v4:
7-117479583-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117479587del , CM000669.2:g.117479587del | GRCh38 |
| NC_000007.13:g.117119641del , CM000669.1:g.117119641del | GRCh37 |
| NC_000007.12:g.116906877del | NCBI36 |
| NG_016465.4:g.18804del , LRG_663:g.18804del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446805.2:c.-298del | ENSP00000417012.1:n.-298del | |
| ENST00000673785.1:c.-406+13756del | ENSP00000501235.1:n.-406+13756del | |
| ENST00000446805.1:c.-298del | ENSP00000417012.1:n.-298del | |
| ENST00000546407.1:n.166+3779del | ||
| XM_011515751.1:c.143+242del | XP_011514053.1:n.143+242del | |
| XM_011515752.1:c.143+242del | XP_011514054.1:n.143+242del | |
| XM_011515753.1:c.-298del | XP_011514055.1:n.-298del | |
| XM_011515754.1:c.-626del | XP_011514056.1:n.-626del |