Linked Data
dbSNP Id:
rs1923499354
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54495113_54495116del , CM000685.2:g.54495113_54495116del | GRCh38 |
| NC_000023.10:g.54521546_54521549del , CM000685.1:g.54521546_54521549del | GRCh37 |
| NC_000023.9:g.54538271_54538274del | NCBI36 |
| NG_008054.1:g.6051_6054del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.307+10_307+13del MANE Select | ENSP00000364277.3:n.307+10_307+13del | |
| ENST00000375135.3:c.307+10_307+13del | ENSP00000364277.3:n.307+10_307+13del | |
| NM_004463.2:c.307+10_307+13del | NP_004454.2:n.307+10_307+13del | |
| NM_004463.3:c.307+10_307+13del MANE Select | NP_004454.2:n.307+10_307+13del |