ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21012517del , CM000664.2:g.21012517del | GRCh38 |
| NC_000002.11:g.21235389del , CM000664.1:g.21235389del | GRCh37 |
| NC_000002.10:g.21088894del | NCBI36 |
| NG_011793.1:g.36558del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*3658del | ENSP00000501110.2:n.*3658del | |
| ENST00000673739.1:c.4066del | ENSP00000501110.1:n.4066del | |
| ENST00000233242.5:c.4352del MANE Select | ENSP00000233242.1:p.Gly1451ValfsTer3 | |
| ENST00000616098.4:c.4352del | ENSP00000477990.1:p.Gly1451ValfsTer3 | |
| NM_000384.2:c.4352del | NP_000375.2:p.Gly1451ValfsTer3 | |
| XM_011532809.1:c.4352del | XP_011531111.1:p.Gly1451ValfsTer3 | |
| NM_000384.3:c.4352del MANE Select | NP_000375.3:p.Gly1451ValfsTer3 |