Canonical Allele Identifier: CA2529687803

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562831_57562832insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA , CM000682.2:g.57562831_57562832insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	GRCh38
NC_000020.10:g.56137887_56137888insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA , CM000682.1:g.56137887_56137888insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	GRCh37
NC_000020.9:g.55571293_55571294insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	NCBI36
NG_008205.1:g.6751_6752insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.542_543insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA MANE Select	ENSP00000319814.4:p.Glu182ArgfsTer?
ENST00000319441.5:c.542_543insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	ENSP00000319814.4:p.Glu182ArgfsTer?
ENST00000467047.1:n.1752_1753insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA
ENST00000498194.1:n.484_485insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA
NM_002591.3:c.542_543insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	NP_002582.3:p.Glu182ArgfsTer?
XM_011528839.1:c.146_147insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	XP_011527141.1:p.Glu50ArgfsTer?
XM_024451888.1:c.146_147insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA	XP_024307656.1:p.Glu50ArgfsTer?
NM_002591.4:c.542_543insTCGTGCCCGCCGTCCACAGCGTCGGCATGCCGCTGCTCGAAGGTGTCCA MANE Select	NP_002582.3:p.Glu182ArgfsTer?