Linked Data
dbSNP Id:
rs1922742195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465667del , CM000685.2:g.54465667del | GRCh38 |
| NC_000023.10:g.54492100del , CM000685.1:g.54492100del | GRCh37 |
| NC_000023.9:g.54508825del | NCBI36 |
| NG_008054.1:g.35501del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1497+30del MANE Select | ENSP00000364277.3:n.1497+30del | |
| ENST00000375135.3:c.1497+30del | ENSP00000364277.3:n.1497+30del | |
| NM_004463.2:c.1497+30del | NP_004454.2:n.1497+30del | |
| NM_004463.3:c.1497+30del MANE Select | NP_004454.2:n.1497+30del |