Linked Data
dbSNP Id:
rs762407762
ExAC:
4:178360048 A / AGG
MyVariant Identifiers:
chr4:g.178360048_178360049insGG (hg19)
chr4:g.177438894_177438895insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438895_177438896insGG , CM000666.2:g.177438895_177438896insGG | GRCh38 |
| NC_000004.11:g.178360049_178360050insGG , CM000666.1:g.178360049_178360050insGG | GRCh37 |
| NC_000004.10:g.178597043_178597044insGG | NCBI36 |
| NG_011845.2:g.8609_8610insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.395-38_395-37insCC MANE Select | ENSP00000264595.2:n.395-38_395-37insCC | |
| ENST00000264595.6:c.395-38_395-37insCC | ENSP00000264595.2:n.395-38_395-37insCC | |
| ENST00000502310.5:c.50-38_50-37insCC | ENSP00000423798.1:n.50-38_50-37insCC | |
| ENST00000506853.5:n.429-38_429-37insCC | ||
| ENST00000510635.1:c.91-38_91-37insCC | ||
| ENST00000510955.5:n.316-38_316-37insCC | ||
| NM_000027.3:c.395-38_395-37insCC | NP_000018.2:n.395-38_395-37insCC | |
| NM_001171988.1:c.395-38_395-37insCC | NP_001165459.1:n.395-38_395-37insCC | |
| NR_033655.1:n.523-38_523-37insCC | ||
| XM_006714123.2:c.395-38_395-37insCC | XP_006714186.1:n.395-38_395-37insCC | |
| XR_001741155.2:n.489-38_489-37insCC | ||
| NM_000027.4:c.395-38_395-37insCC MANE Select | NP_000018.2:n.395-38_395-37insCC | |
| NM_001171988.2:c.395-38_395-37insCC | NP_001165459.1:n.395-38_395-37insCC | |
| NR_033655.2:n.457-38_457-37insCC |