Canonical Allele Identifier: CA2404041400

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36803501_36803513delinsTGGATGGATGGAG , CM000684.2:g.36803501_36803513delinsTGGATGGATGGAG	GRCh38
NC_000022.10:g.37199545_37199557delinsTGGATGGATGGAG , CM000684.1:g.37199545_37199557delinsTGGATGGATGGAG	GRCh37
NC_000022.9:g.35529491_35529503delinsTGGATGGATGGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.305-2595_305-2583delinsCTCCATCCATCCA MANE Select	ENSP00000400247.2:n.305-2595_305-2583delinsCTCCATCCATCCA
ENST00000216200.9:c.305-2595_305-2583delinsCTCCATCCATCCA	ENSP00000216200.5:n.305-2595_305-2583delinsCTCCATCCATCCA
ENST00000404171.1:c.209-2595_209-2583delinsCTCCATCCATCCA	ENSP00000386089.1:n.209-2595_209-2583delinsCTCCATCCATCCA
ENST00000406910.6:c.351-2595_351-2583delinsCTCCATCCATCCA
ENST00000417718.6:c.305-2595_305-2583delinsCTCCATCCATCCA	ENSP00000400247.2:n.305-2595_305-2583delinsCTCCATCCATCCA
NM_001315532.1:c.305-2595_305-2583delinsCTCCATCCATCCA	NP_001302461.1:n.305-2595_305-2583delinsCTCCATCCATCCA
NM_002854.2:c.305-2595_305-2583delinsCTCCATCCATCCA	NP_002845.1:n.305-2595_305-2583delinsCTCCATCCATCCA
NM_001315532.2:c.305-2595_305-2583delinsCTCCATCCATCCA MANE Select	NP_001302461.1:n.305-2595_305-2583delinsCTCCATCCATCCA
NM_002854.3:c.305-2595_305-2583delinsCTCCATCCATCCA	NP_002845.1:n.305-2595_305-2583delinsCTCCATCCATCCA