Canonical Allele Identifier: CA2404045946

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813599_36813600delinsAC , CM000684.2:g.36813599_36813600delinsAC	GRCh38
NC_000022.10:g.37209643_37209644delinsAC , CM000684.1:g.37209643_37209644delinsAC	GRCh37
NC_000022.9:g.35539589_35539590delinsAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+46_304+47delinsGT MANE Select	ENSP00000400247.2:n.304+46_304+47delinsGT
ENST00000216200.9:c.304+46_304+47delinsGT	ENSP00000216200.5:n.304+46_304+47delinsGT
ENST00000404171.1:c.208+46_208+47delinsGT	ENSP00000386089.1:n.208+46_208+47delinsGT
ENST00000406910.6:c.300+46_300+47delinsGT
ENST00000417718.6:c.304+46_304+47delinsGT	ENSP00000400247.2:n.304+46_304+47delinsGT
ENST00000467935.1:n.380_381delinsGT
NM_001315532.1:c.304+46_304+47delinsGT	NP_001302461.1:n.304+46_304+47delinsGT
NM_002854.2:c.304+46_304+47delinsGT	NP_002845.1:n.304+46_304+47delinsGT
XM_011530288.1:c.304+46_304+47delinsGT	XP_011528590.1:n.304+46_304+47delinsGT
NM_001315532.2:c.304+46_304+47delinsGT MANE Select	NP_001302461.1:n.304+46_304+47delinsGT
NM_002854.3:c.304+46_304+47delinsGT	NP_002845.1:n.304+46_304+47delinsGT