ClinVar Variation:
dbSNP:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27777053_27777054del , CM000670.2:g.27777053_27777054del | GRCh38 |
| NC_000008.10:g.27634570_27634571del , CM000670.1:g.27634570_27634571del | GRCh37 |
| NC_000008.9:g.27690489_27690490del | NCBI36 |
| NG_008117.1:g.7513_7514del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.745_746del MANE Select | ENSP00000306999.8:p.Val249GlnfsTer2 | |
| ENST00000305188.12:c.745_746del | ENSP00000306999.8:p.Val249GlnfsTer2 | |
| ENST00000522378.5:c.745_746del | ENSP00000428928.1:p.Val249GlnfsTer2 | |
| ENST00000523910.1:n.544_545del | ||
| ENST00000524293.1:n.763_764del | ||
| NM_001017420.2:c.745_746del | NP_001017420.1:p.Val249GlnfsTer2 | |
| XM_011544421.1:c.745_746del | XP_011542723.1:p.Val249GlnfsTer2 | |
| XM_011544422.1:c.745_746del | XP_011542724.1:p.Val249GlnfsTer2 | |
| XR_949378.1:n.829_830del | ||
| XR_949379.1:n.829_830del | ||
| XM_011544421.2:c.745_746del | XP_011542723.1:p.Val249GlnfsTer2 | |
| XM_011544422.2:c.745_746del | XP_011542724.1:p.Val249GlnfsTer2 | |
| XR_949378.3:n.829_830del | ||
| NM_001017420.3:c.745_746del MANE Select | NP_001017420.1:p.Val249GlnfsTer2 |