Canonical Allele Identifier: CA752872651

Gene: PVALB

Linked Data

• dbSNP Id: rs535685267
• gnomAD v3: 22-36803673-GTGGATGGATGGATGGATGGATGGATGGA-G
• gnomAD v4: 22-36803673-GTGGATGGATGGATGGATGGATGGATGGA-G
• MyVariant Identifiers: chr22:g.37199718_37199745del (hg19) ; chr22:g.36803674_36803701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803685_36803712del , CM000684.2:g.36803685_36803712del	GRCh38
NC_000022.10:g.37199729_37199756del , CM000684.1:g.37199729_37199756del	GRCh37
NC_000022.9:g.35529675_35529702del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.305-2783_305-2756del MANE Select	ENSP00000400247.2:n.305-2783_305-2756del
ENST00000216200.9:c.305-2783_305-2756del	ENSP00000216200.5:n.305-2783_305-2756del
ENST00000404171.1:c.209-2783_209-2756del	ENSP00000386089.1:n.209-2783_209-2756del
ENST00000406910.6:c.351-2783_351-2756del
ENST00000417718.6:c.305-2783_305-2756del	ENSP00000400247.2:n.305-2783_305-2756del
NM_001315532.1:c.305-2783_305-2756del	NP_001302461.1:n.305-2783_305-2756del
NM_002854.2:c.305-2783_305-2756del	NP_002845.1:n.305-2783_305-2756del
NM_001315532.2:c.305-2783_305-2756del MANE Select	NP_001302461.1:n.305-2783_305-2756del
NM_002854.3:c.305-2783_305-2756del	NP_002845.1:n.305-2783_305-2756del