Canonical Allele Identifier: CA1025503297

Gene: PVALB

Linked Data

• dbSNP Id: rs1938904016
• gnomAD v3: 22-36803584-TGAGGAATGGGTGGATGGAG-T
• gnomAD v4: 22-36803584-TGAGGAATGGGTGGATGGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803586_36803604del , CM000684.2:g.36803586_36803604del	GRCh38
NC_000022.10:g.37199630_37199648del , CM000684.1:g.37199630_37199648del	GRCh37
NC_000022.9:g.35529576_35529594del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2685_305-2667del MANE Select	ENSP00000400247.2:n.305-2685_305-2667del
ENST00000216200.9:c.305-2685_305-2667del	ENSP00000216200.5:n.305-2685_305-2667del
ENST00000404171.1:c.209-2685_209-2667del	ENSP00000386089.1:n.209-2685_209-2667del
ENST00000406910.6:c.351-2685_351-2667del
ENST00000417718.6:c.305-2685_305-2667del	ENSP00000400247.2:n.305-2685_305-2667del
NM_001315532.1:c.305-2685_305-2667del	NP_001302461.1:n.305-2685_305-2667del
NM_002854.2:c.305-2685_305-2667del	NP_002845.1:n.305-2685_305-2667del
NM_001315532.2:c.305-2685_305-2667del MANE Select	NP_001302461.1:n.305-2685_305-2667del
NM_002854.3:c.305-2685_305-2667del	NP_002845.1:n.305-2685_305-2667del