Canonical Allele Identifier: CA1025503257

Gene: PVALB

Linked Data

• dbSNP Id: rs1362655875
• gnomAD v3: 22-36803563-G-GGAGA
• gnomAD v4: 22-36803563-G-GGAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803563_36803564insGAGA , CM000684.2:g.36803563_36803564insGAGA	GRCh38
NC_000022.10:g.37199607_37199608insGAGA , CM000684.1:g.37199607_37199608insGAGA	GRCh37
NC_000022.9:g.35529553_35529554insGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2646_305-2645insTCTC MANE Select	ENSP00000400247.2:n.305-2646_305-2645insTCTC
ENST00000216200.9:c.305-2646_305-2645insTCTC	ENSP00000216200.5:n.305-2646_305-2645insTCTC
ENST00000404171.1:c.209-2646_209-2645insTCTC	ENSP00000386089.1:n.209-2646_209-2645insTCTC
ENST00000406910.6:c.351-2646_351-2645insTCTC
ENST00000417718.6:c.305-2646_305-2645insTCTC	ENSP00000400247.2:n.305-2646_305-2645insTCTC
NM_001315532.1:c.305-2646_305-2645insTCTC	NP_001302461.1:n.305-2646_305-2645insTCTC
NM_002854.2:c.305-2646_305-2645insTCTC	NP_002845.1:n.305-2646_305-2645insTCTC
NM_001315532.2:c.305-2646_305-2645insTCTC MANE Select	NP_001302461.1:n.305-2646_305-2645insTCTC
NM_002854.3:c.305-2646_305-2645insTCTC	NP_002845.1:n.305-2646_305-2645insTCTC