Linked Data
dbSNP Id:
rs1309460216
gnomAD v2:
Y-14491596-G-GA
gnomAD v3:
Y-12379793-G-GA
gnomAD v4:
Y-12379793-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12379793_12379794insA , CM000686.2:g.12379793_12379794insA | GRCh38 |
| NC_000024.9:g.14491596_14491597insA , CM000686.1:g.14491596_14491597insA | GRCh37 |
| NC_000024.8:g.13001604_13001605insA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382965.3:n.317-1045_317-1044insT (GYG2P1) | ||
| ENST00000689264.1:n.402-1045_402-1044insT (GYG2P1) | ||
| ENST00000443820.2:n.989+1971_989+1972insA (ARSDP1) | ||
| ENST00000651802.1:n.450+26590_450+26591insT (GYG2P1) | ||
| ENST00000651835.1:n.319+27002_319+27003insT (GYG2P1) | ||
| ENST00000382966.5:n.284-25023_284-25022insT (GYG2P1) | ||
| ENST00000443820.1:n.438-2543_438-2542insA (ARSDP1) | ||
| XR_001756061.1:n.609-1045_609-1044insT |