Canonical Allele Identifier: CA2816822617

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562830_57562831insCGGCCGTCCACTCCGTCGGCGCCCCGC , CM000682.2:g.57562830_57562831insCGGCCGTCCACTCCGTCGGCGCCCCGC	GRCh38
NC_000020.10:g.56137886_56137887insCGGCCGTCCACTCCGTCGGCGCCCCGC , CM000682.1:g.56137886_56137887insCGGCCGTCCACTCCGTCGGCGCCCCGC	GRCh37
NC_000020.9:g.55571292_55571293insCGGCCGTCCACTCCGTCGGCGCCCCGC	NCBI36
NG_008205.1:g.6750_6751insCGGCCGTCCACTCCGTCGGCGCCCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.541_542insCGGCCGTCCACTCCGTCGGCGCCCCGC MANE Select	ENSP00000319814.4:p.Val180_Leu181insProAlaValHisSerValGlyAlaP...
ENST00000319441.5:c.541_542insCGGCCGTCCACTCCGTCGGCGCCCCGC	ENSP00000319814.4:p.Val180_Leu181insProAlaValHisSerValGlyAlaP...
ENST00000467047.1:n.1751_1752insCGGCCGTCCACTCCGTCGGCGCCCCGC
ENST00000498194.1:n.483_484insCGGCCGTCCACTCCGTCGGCGCCCCGC
NM_002591.3:c.541_542insCGGCCGTCCACTCCGTCGGCGCCCCGC	NP_002582.3:p.Val180_Leu181insProAlaValHisSerValGlyAlaPro
XM_011528839.1:c.145_146insCGGCCGTCCACTCCGTCGGCGCCCCGC	XP_011527141.1:p.Val48_Leu49insProAlaValHisSerValGlyAlaPro
XM_024451888.1:c.145_146insCGGCCGTCCACTCCGTCGGCGCCCCGC	XP_024307656.1:p.Val48_Leu49insProAlaValHisSerValGlyAlaPro
NM_002591.4:c.541_542insCGGCCGTCCACTCCGTCGGCGCCCCGC MANE Select	NP_002582.3:p.Val180_Leu181insProAlaValHisSerValGlyAlaPro