Linked Data
dbSNP Id:
rs2100695622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535784_1535786del , CM000663.2:g.1535784_1535786del | GRCh38 |
| NC_000001.10:g.1471164_1471166del , CM000663.1:g.1471164_1471166del | GRCh37 |
| NC_000001.9:g.1461027_1461029del | NCBI36 |
| NG_041807.1:g.9577_9579del | |
| NG_053035.1:g.28642_28644del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.178_180del MANE Select | ENSP00000368007.4:p.Tyr60del | |
| ENST00000378733.8:c.178_180del | ENSP00000368007.4:p.Tyr60del | |
| ENST00000425828.1:c.178_180del | ENSP00000400311.1:p.Tyr60del | |
| NM_001114748.1:c.178_180del | NP_001108220.1:p.Tyr60del | |
| NM_001114748.2:c.178_180del MANE Select | NP_001108220.1:p.Tyr60del |