Linked Data
dbSNP Id:
rs1752399406
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028875_135028883del , CM000667.2:g.135028875_135028883del | GRCh38 |
| NC_000005.9:g.134364565_134364573del , CM000667.1:g.134364565_134364573del | GRCh37 |
| NC_000005.8:g.134392464_134392472del | NCBI36 |
| NG_012114.1:g.10397_10405del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.846_854del MANE Select | ENSP00000265340.6:p.Ala283_Leu285del | |
| ENST00000265340.11:c.846_854del | ENSP00000265340.6:p.Ala283_Leu285del | |
| ENST00000506438.5:c.846_854del | ENSP00000427542.1:p.Ala283_Leu285del | |
| NM_002653.4:c.846_854del | NP_002644.4:p.Ala283_Leu285del | |
| NM_002653.5:c.846_854del MANE Select | NP_002644.4:p.Ala283_Leu285del |