Canonical Allele Identifier: CA2404045785

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813272_36813274delinsCAG , CM000684.2:g.36813272_36813274delinsCAG	GRCh38
NC_000022.10:g.37209316_37209318delinsCAG , CM000684.1:g.37209316_37209318delinsCAG	GRCh37
NC_000022.9:g.35539262_35539264delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+372_304+374delinsCTG MANE Select	ENSP00000400247.2:n.304+372_304+374delinsCTG
ENST00000216200.9:c.304+372_304+374delinsCTG	ENSP00000216200.5:n.304+372_304+374delinsCTG
ENST00000404171.1:c.208+372_208+374delinsCTG	ENSP00000386089.1:n.208+372_208+374delinsCTG
ENST00000406910.6:c.300+372_300+374delinsCTG
ENST00000417718.6:c.304+372_304+374delinsCTG	ENSP00000400247.2:n.304+372_304+374delinsCTG
NM_001315532.1:c.304+372_304+374delinsCTG	NP_001302461.1:n.304+372_304+374delinsCTG
NM_002854.2:c.304+372_304+374delinsCTG	NP_002845.1:n.304+372_304+374delinsCTG
XM_011530288.1:c.304+372_304+374delinsCTG	XP_011528590.1:n.304+372_304+374delinsCTG
NM_001315532.2:c.304+372_304+374delinsCTG MANE Select	NP_001302461.1:n.304+372_304+374delinsCTG
NM_002854.3:c.304+372_304+374delinsCTG	NP_002845.1:n.304+372_304+374delinsCTG