Canonical Allele Identifier: CA2569575452

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562822_57562823insCCGTGTGGGACGTGCTGGGTACTGACGGT , CM000682.2:g.57562822_57562823insCCGTGTGGGACGTGCTGGGTACTGACGGT	GRCh38
NC_000020.10:g.56137878_56137879insCCGTGTGGGACGTGCTGGGTACTGACGGT , CM000682.1:g.56137878_56137879insCCGTGTGGGACGTGCTGGGTACTGACGGT	GRCh37
NC_000020.9:g.55571284_55571285insCCGTGTGGGACGTGCTGGGTACTGACGGT	NCBI36
NG_008205.1:g.6742_6743insCCGTGTGGGACGTGCTGGGTACTGACGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT MANE Select	ENSP00000319814.4:p.Pro179ArgfsTer8
ENST00000319441.5:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT	ENSP00000319814.4:p.Pro179ArgfsTer8
ENST00000467047.1:n.1743_1744insCCGTGTGGGACGTGCTGGGTACTGACGGT
ENST00000498194.1:n.475_476insCCGTGTGGGACGTGCTGGGTACTGACGGT
NM_002591.3:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT	NP_002582.3:p.Pro179ArgfsTer8
XM_011528839.1:c.137_138insCCGTGTGGGACGTGCTGGGTACTGACGGT	XP_011527141.1:p.Pro47ArgfsTer8
XM_024451888.1:c.137_138insCCGTGTGGGACGTGCTGGGTACTGACGGT	XP_024307656.1:p.Pro47ArgfsTer8
NM_002591.4:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT MANE Select	NP_002582.3:p.Pro179ArgfsTer8