Linked Data
dbSNP Id:
rs2077725916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984424_45984432del , CM000683.2:g.45984424_45984432del | GRCh38 |
| NC_000021.8:g.47404338_47404346del , CM000683.1:g.47404338_47404346del | GRCh37 |
| NC_000021.7:g.46228766_46228774del | NCBI36 |
| NG_008674.1:g.7676_7684del , LRG_475:g.7676_7684del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.383_391del MANE Select | ENSP00000355180.3:p.Tyr128_Asp130del | |
| ENST00000361866.7:c.383_391del | ENSP00000355180.3:p.Tyr128_Asp130del | |
| ENST00000612273.1:c.383_391del | ENSP00000483630.1:p.Tyr128_Asp130del | |
| NM_001848.2:c.383_391del , LRG_475t1:c.383_391del | NP_001839.2:p.Tyr128_Asp130del | |
| NM_001848.3:c.383_391del MANE Select | NP_001839.2:p.Tyr128_Asp130del |