Canonical Allele Identifier: CA2404041410

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803514_36803526delinsGGATGGATGGACA , CM000684.2:g.36803514_36803526delinsGGATGGATGGACA	GRCh38
NC_000022.10:g.37199558_37199570delinsGGATGGATGGACA , CM000684.1:g.37199558_37199570delinsGGATGGATGGACA	GRCh37
NC_000022.9:g.35529504_35529516delinsGGATGGATGGACA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2608_305-2596delinsTGTCCATCCATCC MANE Select	ENSP00000400247.2:n.305-2608_305-2596delinsTGTCCATCCATCC
ENST00000216200.9:c.305-2608_305-2596delinsTGTCCATCCATCC	ENSP00000216200.5:n.305-2608_305-2596delinsTGTCCATCCATCC
ENST00000404171.1:c.209-2608_209-2596delinsTGTCCATCCATCC	ENSP00000386089.1:n.209-2608_209-2596delinsTGTCCATCCATCC
ENST00000406910.6:c.351-2608_351-2596delinsTGTCCATCCATCC
ENST00000417718.6:c.305-2608_305-2596delinsTGTCCATCCATCC	ENSP00000400247.2:n.305-2608_305-2596delinsTGTCCATCCATCC
NM_001315532.1:c.305-2608_305-2596delinsTGTCCATCCATCC	NP_001302461.1:n.305-2608_305-2596delinsTGTCCATCCATCC
NM_002854.2:c.305-2608_305-2596delinsTGTCCATCCATCC	NP_002845.1:n.305-2608_305-2596delinsTGTCCATCCATCC
NM_001315532.2:c.305-2608_305-2596delinsTGTCCATCCATCC MANE Select	NP_001302461.1:n.305-2608_305-2596delinsTGTCCATCCATCC
NM_002854.3:c.305-2608_305-2596delinsTGTCCATCCATCC	NP_002845.1:n.305-2608_305-2596delinsTGTCCATCCATCC