Canonical Allele Identifier: CA2404045842

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813369_36813370delinsGA , CM000684.2:g.36813369_36813370delinsGA	GRCh38
NC_000022.10:g.37209413_37209414delinsGA , CM000684.1:g.37209413_37209414delinsGA	GRCh37
NC_000022.9:g.35539359_35539360delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+276_304+277delinsTC MANE Select	ENSP00000400247.2:n.304+276_304+277delinsTC
ENST00000216200.9:c.304+276_304+277delinsTC	ENSP00000216200.5:n.304+276_304+277delinsTC
ENST00000404171.1:c.208+276_208+277delinsTC	ENSP00000386089.1:n.208+276_208+277delinsTC
ENST00000406910.6:c.300+276_300+277delinsTC
ENST00000417718.6:c.304+276_304+277delinsTC	ENSP00000400247.2:n.304+276_304+277delinsTC
NM_001315532.1:c.304+276_304+277delinsTC	NP_001302461.1:n.304+276_304+277delinsTC
NM_002854.2:c.304+276_304+277delinsTC	NP_002845.1:n.304+276_304+277delinsTC
XM_011530288.1:c.304+276_304+277delinsTC	XP_011528590.1:n.304+276_304+277delinsTC
NM_001315532.2:c.304+276_304+277delinsTC MANE Select	NP_001302461.1:n.304+276_304+277delinsTC
NM_002854.3:c.304+276_304+277delinsTC	NP_002845.1:n.304+276_304+277delinsTC