Canonical Allele Identifier: CA2404045789

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813276_36813285delinsGGCCCAGCGA , CM000684.2:g.36813276_36813285delinsGGCCCAGCGA	GRCh38
NC_000022.10:g.37209320_37209329delinsGGCCCAGCGA , CM000684.1:g.37209320_37209329delinsGGCCCAGCGA	GRCh37
NC_000022.9:g.35539266_35539275delinsGGCCCAGCGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+361_304+370delinsTCGCTGGGCC MANE Select	ENSP00000400247.2:n.304+361_304+370delinsTCGCTGGGCC
ENST00000216200.9:c.304+361_304+370delinsTCGCTGGGCC	ENSP00000216200.5:n.304+361_304+370delinsTCGCTGGGCC
ENST00000404171.1:c.208+361_208+370delinsTCGCTGGGCC	ENSP00000386089.1:n.208+361_208+370delinsTCGCTGGGCC
ENST00000406910.6:c.300+361_300+370delinsTCGCTGGGCC
ENST00000417718.6:c.304+361_304+370delinsTCGCTGGGCC	ENSP00000400247.2:n.304+361_304+370delinsTCGCTGGGCC
NM_001315532.1:c.304+361_304+370delinsTCGCTGGGCC	NP_001302461.1:n.304+361_304+370delinsTCGCTGGGCC
NM_002854.2:c.304+361_304+370delinsTCGCTGGGCC	NP_002845.1:n.304+361_304+370delinsTCGCTGGGCC
XM_011530288.1:c.304+361_304+370delinsTCGCTGGGCC	XP_011528590.1:n.304+361_304+370delinsTCGCTGGGCC
NM_001315532.2:c.304+361_304+370delinsTCGCTGGGCC MANE Select	NP_001302461.1:n.304+361_304+370delinsTCGCTGGGCC
NM_002854.3:c.304+361_304+370delinsTCGCTGGGCC	NP_002845.1:n.304+361_304+370delinsTCGCTGGGCC