Canonical Allele Identifier: CA2502515755

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562831_57562832insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA , CM000682.2:g.57562831_57562832insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	GRCh38
NC_000020.10:g.56137887_56137888insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA , CM000682.1:g.56137887_56137888insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	GRCh37
NC_000020.9:g.55571293_55571294insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	NCBI36
NG_008205.1:g.6751_6752insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.542_543insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA MANE Select	ENSP00000319814.4:p.Glu182ArgfsTer13
ENST00000319441.5:c.542_543insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	ENSP00000319814.4:p.Glu182ArgfsTer13
ENST00000467047.1:n.1752_1753insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA
ENST00000498194.1:n.484_485insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA
NM_002591.3:c.542_543insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	NP_002582.3:p.Glu182ArgfsTer13
XM_011528839.1:c.146_147insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	XP_011527141.1:p.Glu50ArgfsTer13
XM_024451888.1:c.146_147insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA	XP_024307656.1:p.Glu50ArgfsTer13
NM_002591.4:c.542_543insTCGTGCCTGCCGTTCACAGCGTCGGCATGCCGCTGCTTGAGGGCGTCCA MANE Select	NP_002582.3:p.Glu182ArgfsTer13