Canonical Allele Identifier: CA752872690

Gene: PVALB

Linked Data

• dbSNP Id: rs1251730091
• gnomAD v3: 22-36803701-ATGGATGGATGGG-A
• gnomAD v4: 22-36803701-ATGGATGGATGGG-A
• MyVariant Identifiers: chr22:g.37199746_37199757del (hg19) ; chr22:g.36803702_36803713del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803705_36803716del , CM000684.2:g.36803705_36803716del	GRCh38
NC_000022.10:g.37199749_37199760del , CM000684.1:g.37199749_37199760del	GRCh37
NC_000022.9:g.35529695_35529706del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2795_305-2784del MANE Select	ENSP00000400247.2:n.305-2795_305-2784del
ENST00000216200.9:c.305-2795_305-2784del	ENSP00000216200.5:n.305-2795_305-2784del
ENST00000404171.1:c.209-2795_209-2784del	ENSP00000386089.1:n.209-2795_209-2784del
ENST00000406910.6:c.351-2795_351-2784del
ENST00000417718.6:c.305-2795_305-2784del	ENSP00000400247.2:n.305-2795_305-2784del
NM_001315532.1:c.305-2795_305-2784del	NP_001302461.1:n.305-2795_305-2784del
NM_002854.2:c.305-2795_305-2784del	NP_002845.1:n.305-2795_305-2784del
NM_001315532.2:c.305-2795_305-2784del MANE Select	NP_001302461.1:n.305-2795_305-2784del
NM_002854.3:c.305-2795_305-2784del	NP_002845.1:n.305-2795_305-2784del