Canonical Allele Identifier: CA1025503408

Gene: PVALB

Linked Data

• dbSNP Id: rs1555910551
• gnomAD v3: 22-36803673-G-GGA
• gnomAD v4: 22-36803673-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803673_36803674insGA , CM000684.2:g.36803673_36803674insGA	GRCh38
NC_000022.10:g.37199717_37199718insGA , CM000684.1:g.37199717_37199718insGA	GRCh37
NC_000022.9:g.35529663_35529664insGA	NCBI36

Transcript Alleles

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