Linked Data
dbSNP Id:
rs2077725192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984372_45984377del , CM000683.2:g.45984372_45984377del | GRCh38 |
| NC_000021.8:g.47404286_47404291del , CM000683.1:g.47404286_47404291del | GRCh37 |
| NC_000021.7:g.46228714_46228719del | NCBI36 |
| NG_008674.1:g.7624_7629del , LRG_475:g.7624_7629del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.331_336del MANE Select | ENSP00000355180.3:p.Asp111_Ala112del | |
| ENST00000361866.7:c.331_336del | ENSP00000355180.3:p.Asp111_Ala112del | |
| ENST00000612273.1:c.331_336del | ENSP00000483630.1:p.Asp111_Ala112del | |
| NM_001848.2:c.331_336del , LRG_475t1:c.331_336del | NP_001839.2:p.Asp111_Ala112del | |
| NM_001848.3:c.331_336del MANE Select | NP_001839.2:p.Asp111_Ala112del |