gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56451438del , CM000674.2:g.56451438del | GRCh38 |
| NC_000012.11:g.56845222del , CM000674.1:g.56845222del | GRCh37 |
| NC_000012.10:g.55131489del | NCBI36 |
| NG_021397.1:g.8218del | |
| NG_021397.2:g.22733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648304.1:c.*262del | ENSP00000497190.1:n.*262del | |
| ENST00000648442.1:n.771del | ||
| ENST00000650166.1:n.527del | ||
| ENST00000652304.1:c.638del MANE Select | ENSP00000498622.1:p.Gly213ValfsTer? | |
| ENST00000257979.4:c.638del | ENSP00000257979.4:p.Gly213ValfsTer? | |
| NM_012064.3:c.638del | NP_036196.1:p.Gly213ValfsTer? | |
| XM_011538354.1:c.353del | XP_011536656.1:p.Gly118ValfsTer? | |
| NM_012064.4:c.638del MANE Select | NP_036196.1:p.Gly213ValfsTer? | |
| XM_017019306.1:c.281del | XP_016874795.1:p.Gly94ValfsTer? |