Linked Data
dbSNP Id:
rs1381717637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424049_23424051del , CM000676.2:g.23424049_23424051del | GRCh38 |
| NC_000014.8:g.23893258_23893260del , CM000676.1:g.23893258_23893260del | GRCh37 |
| NC_000014.7:g.22963098_22963100del | NCBI36 |
| NG_007884.1:g.16614_16616del , LRG_384:g.16614_16616del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2781_2783del MANE Select | ENSP00000347507.3:p.Glu927del | |
| ENST00000355349.3:c.2781_2783del | ENSP00000347507.3:p.Glu927del | |
| NM_000257.3:c.2781_2783del | NP_000248.2:p.Glu927del | |
| XR_245686.3:n.2887_2889del | ||
| XM_017021340.1:c.2781_2783del | XP_016876829.1:p.Glu927del | |
| NM_000257.4:c.2781_2783del MANE Select | NP_000248.2:p.Glu927del |