Canonical Allele Identifier: CA1025503268
Gene: PVALB HGNC NCBI

Linked Data

gnomAD v3: 22-36803565-A-AGAGG
gnomAD v4: 22-36803565-A-AGAGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36803567_36803568insGGGA , CM000684.2:g.36803567_36803568insGGGA GRCh38
NC_000022.10:g.37199611_37199612insGGGA , CM000684.1:g.37199611_37199612insGGGA GRCh37
NC_000022.9:g.35529557_35529558insGGGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000417718.7:c.305-2648_305-2647insCCTC MANE Select ENSP00000400247.2:n.305-2648_305-2647insCCTC
ENST00000216200.9:c.305-2648_305-2647insCCTC ENSP00000216200.5:n.305-2648_305-2647insCCTC
ENST00000404171.1:c.209-2648_209-2647insCCTC ENSP00000386089.1:n.209-2648_209-2647insCCTC
ENST00000406910.6:c.351-2648_351-2647insCCTC
ENST00000417718.6:c.305-2648_305-2647insCCTC ENSP00000400247.2:n.305-2648_305-2647insCCTC
NM_001315532.1:c.305-2648_305-2647insCCTC NP_001302461.1:n.305-2648_305-2647insCCTC
NM_002854.2:c.305-2648_305-2647insCCTC NP_002845.1:n.305-2648_305-2647insCCTC
NM_001315532.2:c.305-2648_305-2647insCCTC MANE Select NP_001302461.1:n.305-2648_305-2647insCCTC
NM_002854.3:c.305-2648_305-2647insCCTC NP_002845.1:n.305-2648_305-2647insCCTC
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