Canonical Allele Identifier: CA1025503383
Gene: PVALB HGNC NCBI

Linked Data

gnomAD v3: 22-36803672-G-GAT
gnomAD v4: 22-36803672-G-GAT
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803672_36803673insAT , CM000684.2:g.36803672_36803673insAT GRCh38
NC_000022.10:g.37199716_37199717insAT , CM000684.1:g.37199716_37199717insAT GRCh37
NC_000022.9:g.35529662_35529663insAT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000417718.7:c.305-2755_305-2754insAT MANE Select ENSP00000400247.2:n.305-2755_305-2754insAT
ENST00000216200.9:c.305-2755_305-2754insAT ENSP00000216200.5:n.305-2755_305-2754insAT
ENST00000404171.1:c.209-2755_209-2754insAT ENSP00000386089.1:n.209-2755_209-2754insAT
ENST00000406910.6:c.351-2755_351-2754insAT
ENST00000417718.6:c.305-2755_305-2754insAT ENSP00000400247.2:n.305-2755_305-2754insAT
NM_001315532.1:c.305-2755_305-2754insAT NP_001302461.1:n.305-2755_305-2754insAT
NM_002854.2:c.305-2755_305-2754insAT NP_002845.1:n.305-2755_305-2754insAT
NM_001315532.2:c.305-2755_305-2754insAT MANE Select NP_001302461.1:n.305-2755_305-2754insAT
NM_002854.3:c.305-2755_305-2754insAT NP_002845.1:n.305-2755_305-2754insAT
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