Canonical Allele Identifier: CA2404041491

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803652_36803700delinsAATGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGG , CM000684.2:g.36803652_36803700delinsAATGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGG	GRCh38
NC_000022.10:g.37199696_37199744delinsAATGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGG , CM000684.1:g.37199696_37199744delinsAATGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGG	GRCh37
NC_000022.9:g.35529642_35529690delinsAATGGATGGATGGGTGGGTGGGTGGATGGATGGATGGATGGATGGATGG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000417718.7:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT MANE Select	ENSP00000400247.2:n.305-2782_305-2734delinsCCATCCATCCATCCATCC...
ENST00000216200.9:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT	ENSP00000216200.5:n.305-2782_305-2734delinsCCATCCATCCATCCATCC...
ENST00000404171.1:c.209-2782_209-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT	ENSP00000386089.1:n.209-2782_209-2734delinsCCATCCATCCATCCATCC...
ENST00000406910.6:c.351-2782_351-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT
ENST00000417718.6:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT	ENSP00000400247.2:n.305-2782_305-2734delinsCCATCCATCCATCCATCC...
NM_001315532.1:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT	NP_001302461.1:n.305-2782_305-2734delinsCCATCCATCCATCCATCCATC...
NM_002854.2:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT	NP_002845.1:n.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCAT...
NM_001315532.2:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT MANE Select	NP_001302461.1:n.305-2782_305-2734delinsCCATCCATCCATCCATCCATC...
NM_002854.3:c.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCATCCATT	NP_002845.1:n.305-2782_305-2734delinsCCATCCATCCATCCATCCATCCAT...