Canonical Allele Identifier: CA639160074

Gene: PVALB

Linked Data

• dbSNP Id: rs1268143831
• gnomAD v2: 22-37209379-CCA-C
• gnomAD v3: 22-36813335-CCA-C
• gnomAD v4: 22-36813335-CCA-C
• MyVariant Identifiers: chr22:g.37209380_37209381del (hg19) ; chr22:g.36813336_36813337del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813336_36813337del , CM000684.2:g.36813336_36813337del	GRCh38
NC_000022.10:g.37209380_37209381del , CM000684.1:g.37209380_37209381del	GRCh37
NC_000022.9:g.35539326_35539327del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+309_304+310del MANE Select	ENSP00000400247.2:n.304+309_304+310del
ENST00000216200.9:c.304+309_304+310del	ENSP00000216200.5:n.304+309_304+310del
ENST00000404171.1:c.208+309_208+310del	ENSP00000386089.1:n.208+309_208+310del
ENST00000406910.6:c.300+309_300+310del
ENST00000417718.6:c.304+309_304+310del	ENSP00000400247.2:n.304+309_304+310del
NM_001315532.1:c.304+309_304+310del	NP_001302461.1:n.304+309_304+310del
NM_002854.2:c.304+309_304+310del	NP_002845.1:n.304+309_304+310del
XM_011530288.1:c.304+309_304+310del	XP_011528590.1:n.304+309_304+310del
NM_001315532.2:c.304+309_304+310del MANE Select	NP_001302461.1:n.304+309_304+310del
NM_002854.3:c.304+309_304+310del	NP_002845.1:n.304+309_304+310del