Canonical Allele Identifier: CA2404041506

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803665_36803685delinsGTGGGTGGGTGGATGGATGGA , CM000684.2:g.36803665_36803685delinsGTGGGTGGGTGGATGGATGGA	GRCh38
NC_000022.10:g.37199709_37199729delinsGTGGGTGGGTGGATGGATGGA , CM000684.1:g.37199709_37199729delinsGTGGGTGGGTGGATGGATGGA	GRCh37
NC_000022.9:g.35529655_35529675delinsGTGGGTGGGTGGATGGATGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC MANE Select	ENSP00000400247.2:n.305-2767_305-2747delinsTCCATCCATCCACCCACC...
ENST00000216200.9:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC	ENSP00000216200.5:n.305-2767_305-2747delinsTCCATCCATCCACCCACC...
ENST00000404171.1:c.209-2767_209-2747delinsTCCATCCATCCACCCACCCAC	ENSP00000386089.1:n.209-2767_209-2747delinsTCCATCCATCCACCCACC...
ENST00000406910.6:c.351-2767_351-2747delinsTCCATCCATCCACCCACCCAC
ENST00000417718.6:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC	ENSP00000400247.2:n.305-2767_305-2747delinsTCCATCCATCCACCCACC...
NM_001315532.1:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC	NP_001302461.1:n.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC...
NM_002854.2:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC	NP_002845.1:n.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC
NM_001315532.2:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC MANE Select	NP_001302461.1:n.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC...
NM_002854.3:c.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC	NP_002845.1:n.305-2767_305-2747delinsTCCATCCATCCACCCACCCAC