Canonical Allele Identifier: CA2818896341
Gene: PVALB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803712_36803713insAGGG , CM000684.2:g.36803712_36803713insAGGG GRCh38
NC_000022.10:g.37199756_37199757insAGGG , CM000684.1:g.37199756_37199757insAGGG GRCh37
NC_000022.9:g.35529702_35529703insAGGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.305-2793_305-2792insCTCC MANE Select ENSP00000400247.2:n.305-2793_305-2792insCTCC
ENST00000216200.9:c.305-2793_305-2792insCTCC ENSP00000216200.5:n.305-2793_305-2792insCTCC
ENST00000404171.1:c.209-2793_209-2792insCTCC ENSP00000386089.1:n.209-2793_209-2792insCTCC
ENST00000406910.6:c.351-2793_351-2792insCTCC
ENST00000417718.6:c.305-2793_305-2792insCTCC ENSP00000400247.2:n.305-2793_305-2792insCTCC
NM_001315532.1:c.305-2793_305-2792insCTCC NP_001302461.1:n.305-2793_305-2792insCTCC
NM_002854.2:c.305-2793_305-2792insCTCC NP_002845.1:n.305-2793_305-2792insCTCC
NM_001315532.2:c.305-2793_305-2792insCTCC MANE Select NP_001302461.1:n.305-2793_305-2792insCTCC
NM_002854.3:c.305-2793_305-2792insCTCC NP_002845.1:n.305-2793_305-2792insCTCC