Canonical Allele Identifier: CA1025506715

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813372_36813378dup , CM000684.2:g.36813372_36813378dup	GRCh38
NC_000022.10:g.37209416_37209422dup , CM000684.1:g.37209416_37209422dup	GRCh37
NC_000022.9:g.35539362_35539368dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+270_304+276dup MANE Select	ENSP00000400247.2:n.304+270_304+276dup
ENST00000216200.9:c.304+270_304+276dup	ENSP00000216200.5:n.304+270_304+276dup
ENST00000404171.1:c.208+270_208+276dup	ENSP00000386089.1:n.208+270_208+276dup
ENST00000406910.6:c.300+270_300+276dup
ENST00000417718.6:c.304+270_304+276dup	ENSP00000400247.2:n.304+270_304+276dup
NM_001315532.1:c.304+270_304+276dup	NP_001302461.1:n.304+270_304+276dup
NM_002854.2:c.304+270_304+276dup	NP_002845.1:n.304+270_304+276dup
XM_011530288.1:c.304+270_304+276dup	XP_011528590.1:n.304+270_304+276dup
NM_001315532.2:c.304+270_304+276dup MANE Select	NP_001302461.1:n.304+270_304+276dup
NM_002854.3:c.304+270_304+276dup	NP_002845.1:n.304+270_304+276dup