Canonical Allele Identifier: CA2404045873

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813449_36813450delinsGA , CM000684.2:g.36813449_36813450delinsGA	GRCh38
NC_000022.10:g.37209493_37209494delinsGA , CM000684.1:g.37209493_37209494delinsGA	GRCh37
NC_000022.9:g.35539439_35539440delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+196_304+197delinsTC MANE Select	ENSP00000400247.2:n.304+196_304+197delinsTC
ENST00000216200.9:c.304+196_304+197delinsTC	ENSP00000216200.5:n.304+196_304+197delinsTC
ENST00000404171.1:c.208+196_208+197delinsTC	ENSP00000386089.1:n.208+196_208+197delinsTC
ENST00000406910.6:c.300+196_300+197delinsTC
ENST00000417718.6:c.304+196_304+197delinsTC	ENSP00000400247.2:n.304+196_304+197delinsTC
NM_001315532.1:c.304+196_304+197delinsTC	NP_001302461.1:n.304+196_304+197delinsTC
NM_002854.2:c.304+196_304+197delinsTC	NP_002845.1:n.304+196_304+197delinsTC
XM_011530288.1:c.304+196_304+197delinsTC	XP_011528590.1:n.304+196_304+197delinsTC
NM_001315532.2:c.304+196_304+197delinsTC MANE Select	NP_001302461.1:n.304+196_304+197delinsTC
NM_002854.3:c.304+196_304+197delinsTC	NP_002845.1:n.304+196_304+197delinsTC