Canonical Allele Identifier: CA1025506749

Gene: PVALB

Linked Data

• dbSNP Id: rs1939077991
• gnomAD v3: 22-36813416-A-ACAG
• gnomAD v4: 22-36813416-A-ACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813417_36813419dup , CM000684.2:g.36813417_36813419dup	GRCh38
NC_000022.10:g.37209461_37209463dup , CM000684.1:g.37209461_37209463dup	GRCh37
NC_000022.9:g.35539407_35539409dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+227_304+229dup MANE Select	ENSP00000400247.2:n.304+227_304+229dup
ENST00000216200.9:c.304+227_304+229dup	ENSP00000216200.5:n.304+227_304+229dup
ENST00000404171.1:c.208+227_208+229dup	ENSP00000386089.1:n.208+227_208+229dup
ENST00000406910.6:c.300+227_300+229dup
ENST00000417718.6:c.304+227_304+229dup	ENSP00000400247.2:n.304+227_304+229dup
NM_001315532.1:c.304+227_304+229dup	NP_001302461.1:n.304+227_304+229dup
NM_002854.2:c.304+227_304+229dup	NP_002845.1:n.304+227_304+229dup
XM_011530288.1:c.304+227_304+229dup	XP_011528590.1:n.304+227_304+229dup
NM_001315532.2:c.304+227_304+229dup MANE Select	NP_001302461.1:n.304+227_304+229dup
NM_002854.3:c.304+227_304+229dup	NP_002845.1:n.304+227_304+229dup