Canonical Allele Identifier: CA2404045881

Gene: PVALB

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.36813469_36813473delinsTTGTC , CM000684.2:g.36813469_36813473delinsTTGTC	GRCh38
NC_000022.10:g.37209513_37209517delinsTTGTC , CM000684.1:g.37209513_37209517delinsTTGTC	GRCh37
NC_000022.9:g.35539459_35539463delinsTTGTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000417718.7:c.304+173_304+177delinsGACAA MANE Select	ENSP00000400247.2:n.304+173_304+177delinsGACAA
ENST00000216200.9:c.304+173_304+177delinsGACAA	ENSP00000216200.5:n.304+173_304+177delinsGACAA
ENST00000404171.1:c.208+173_208+177delinsGACAA	ENSP00000386089.1:n.208+173_208+177delinsGACAA
ENST00000406910.6:c.300+173_300+177delinsGACAA
ENST00000417718.6:c.304+173_304+177delinsGACAA	ENSP00000400247.2:n.304+173_304+177delinsGACAA
ENST00000467935.1:n.507_511delinsGACAA
NM_001315532.1:c.304+173_304+177delinsGACAA	NP_001302461.1:n.304+173_304+177delinsGACAA
NM_002854.2:c.304+173_304+177delinsGACAA	NP_002845.1:n.304+173_304+177delinsGACAA
XM_011530288.1:c.304+173_304+177delinsGACAA	XP_011528590.1:n.304+173_304+177delinsGACAA
NM_001315532.2:c.304+173_304+177delinsGACAA MANE Select	NP_001302461.1:n.304+173_304+177delinsGACAA
NM_002854.3:c.304+173_304+177delinsGACAA	NP_002845.1:n.304+173_304+177delinsGACAA