Canonical Allele Identifier: CA2560928948

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562833_57562834insGTACTG , CM000682.2:g.57562833_57562834insGTACTG	GRCh38
NC_000020.10:g.56137889_56137890insGTACTG , CM000682.1:g.56137889_56137890insGTACTG	GRCh37
NC_000020.9:g.55571295_55571296insGTACTG	NCBI36
NG_008205.1:g.6753_6754insGTACTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.544_545insGTACTG MANE Select	ENSP00000319814.4:p.Leu181_Glu182insGlyThr
ENST00000319441.5:c.544_545insGTACTG	ENSP00000319814.4:p.Leu181_Glu182insGlyThr
ENST00000467047.1:n.1754_1755insGTACTG
ENST00000498194.1:n.486_487insGTACTG
NM_002591.3:c.544_545insGTACTG	NP_002582.3:p.Leu181_Glu182insGlyThr
XM_011528839.1:c.148_149insGTACTG	XP_011527141.1:p.Leu49_Glu50insGlyThr
XM_024451888.1:c.148_149insGTACTG	XP_024307656.1:p.Leu49_Glu50insGlyThr
NM_002591.4:c.544_545insGTACTG MANE Select	NP_002582.3:p.Leu181_Glu182insGlyThr