Canonical Allele Identifier: CA2538197156

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562831_57562832insTCGTGCCCGCCGT , CM000682.2:g.57562831_57562832insTCGTGCCCGCCGT	GRCh38
NC_000020.10:g.56137887_56137888insTCGTGCCCGCCGT , CM000682.1:g.56137887_56137888insTCGTGCCCGCCGT	GRCh37
NC_000020.9:g.55571293_55571294insTCGTGCCCGCCGT	NCBI36
NG_008205.1:g.6751_6752insTCGTGCCCGCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.542_543insTCGTGCCCGCCGT MANE Select	ENSP00000319814.4:p.Glu182ArgfsTer?
ENST00000319441.5:c.542_543insTCGTGCCCGCCGT	ENSP00000319814.4:p.Glu182ArgfsTer?
ENST00000467047.1:n.1752_1753insTCGTGCCCGCCGT
ENST00000498194.1:n.484_485insTCGTGCCCGCCGT
NM_002591.3:c.542_543insTCGTGCCCGCCGT	NP_002582.3:p.Glu182ArgfsTer?
XM_011528839.1:c.146_147insTCGTGCCCGCCGT	XP_011527141.1:p.Glu50ArgfsTer?
XM_024451888.1:c.146_147insTCGTGCCCGCCGT	XP_024307656.1:p.Glu50ArgfsTer?
NM_002591.4:c.542_543insTCGTGCCCGCCGT MANE Select	NP_002582.3:p.Glu182ArgfsTer?