Linked Data
ClinVar Variation Id:
2735996
ClinVar RCV Id:
RCV003557801
dbSNP Id:
rs1959062825
gnomAD v4:
13-20189488-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189493del , CM000675.2:g.20189493del | GRCh38 |
| NC_000013.10:g.20763632del , CM000675.1:g.20763632del | GRCh37 |
| NC_000013.9:g.19661632del | NCBI36 |
| NG_008358.1:g.8487del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.93del | ENSP00000372295.1:p.Arg32AlafsTer3 | |
| ENST00000382848.5:c.93del MANE Select | ENSP00000372299.4:p.Arg32AlafsTer3 | |
| ENST00000382844.1:c.93del | ENSP00000372295.1:p.Arg32AlafsTer3 | |
| ENST00000382848.4:c.93del | ENSP00000372299.4:p.Arg32AlafsTer3 | |
| NM_004004.5:c.93del | NP_003995.2:p.Arg32AlafsTer3 | |
| XM_011535049.1:c.93del | XP_011533351.1:p.Arg32AlafsTer3 | |
| XM_011535049.2:c.93del | XP_011533351.1:p.Arg32AlafsTer3 | |
| NM_004004.6:c.93del MANE Select | NP_003995.2:p.Arg32AlafsTer3 |