Canonical Allele Identifier: CA2404041515

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803673_36803701delinsGTGGATGGATGGATGGATGGATGGATGGA , CM000684.2:g.36803673_36803701delinsGTGGATGGATGGATGGATGGATGGATGGA	GRCh38
NC_000022.10:g.37199717_37199745delinsGTGGATGGATGGATGGATGGATGGATGGA , CM000684.1:g.37199717_37199745delinsGTGGATGGATGGATGGATGGATGGATGGA	GRCh37
NC_000022.9:g.35529663_35529691delinsGTGGATGGATGGATGGATGGATGGATGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC MANE Select	ENSP00000400247.2:n.305-2783_305-2755delinsTCCATCCATCCATCCATC...
ENST00000216200.9:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC	ENSP00000216200.5:n.305-2783_305-2755delinsTCCATCCATCCATCCATC...
ENST00000404171.1:c.209-2783_209-2755delinsTCCATCCATCCATCCATCCATCCATCCAC	ENSP00000386089.1:n.209-2783_209-2755delinsTCCATCCATCCATCCATC...
ENST00000406910.6:c.351-2783_351-2755delinsTCCATCCATCCATCCATCCATCCATCCAC
ENST00000417718.6:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC	ENSP00000400247.2:n.305-2783_305-2755delinsTCCATCCATCCATCCATC...
NM_001315532.1:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC	NP_001302461.1:n.305-2783_305-2755delinsTCCATCCATCCATCCATCCAT...
NM_002854.2:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC	NP_002845.1:n.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCA...
NM_001315532.2:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC MANE Select	NP_001302461.1:n.305-2783_305-2755delinsTCCATCCATCCATCCATCCAT...
NM_002854.3:c.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCATCCAC	NP_002845.1:n.305-2783_305-2755delinsTCCATCCATCCATCCATCCATCCA...