Canonical Allele Identifier: CA752872662

Gene: PVALB

Linked Data

• dbSNP Id: rs1555910552
• gnomAD v3: 22-36803673-G-GTGGGTGGA
• gnomAD v4: 22-36803673-G-GTGGGTGGA
• MyVariant Identifiers: chr22:g.37199717_37199718insTGGGTGGA (hg19) ; chr22:g.36803673_36803674insTGGGTGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803676_36803677insGTGGATGG , CM000684.2:g.36803676_36803677insGTGGATGG	GRCh38
NC_000022.10:g.37199720_37199721insGTGGATGG , CM000684.1:g.37199720_37199721insGTGGATGG	GRCh37
NC_000022.9:g.35529666_35529667insGTGGATGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.305-2756_305-2755insTCCACCCA MANE Select	ENSP00000400247.2:n.305-2756_305-2755insTCCACCCA
ENST00000216200.9:c.305-2756_305-2755insTCCACCCA	ENSP00000216200.5:n.305-2756_305-2755insTCCACCCA
ENST00000404171.1:c.209-2756_209-2755insTCCACCCA	ENSP00000386089.1:n.209-2756_209-2755insTCCACCCA
ENST00000406910.6:c.351-2756_351-2755insTCCACCCA
ENST00000417718.6:c.305-2756_305-2755insTCCACCCA	ENSP00000400247.2:n.305-2756_305-2755insTCCACCCA
NM_001315532.1:c.305-2756_305-2755insTCCACCCA	NP_001302461.1:n.305-2756_305-2755insTCCACCCA
NM_002854.2:c.305-2756_305-2755insTCCACCCA	NP_002845.1:n.305-2756_305-2755insTCCACCCA
NM_001315532.2:c.305-2756_305-2755insTCCACCCA MANE Select	NP_001302461.1:n.305-2756_305-2755insTCCACCCA
NM_002854.3:c.305-2756_305-2755insTCCACCCA	NP_002845.1:n.305-2756_305-2755insTCCACCCA