Canonical Allele Identifier: CA2499894373

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562829_57562830insGTGCTGGGTG , CM000682.2:g.57562829_57562830insGTGCTGGGTG	GRCh38
NC_000020.10:g.56137885_56137886insGTGCTGGGTG , CM000682.1:g.56137885_56137886insGTGCTGGGTG	GRCh37
NC_000020.9:g.55571291_55571292insGTGCTGGGTG	NCBI36
NG_008205.1:g.6749_6750insGTGCTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.540_541insGTGCTGGGTG MANE Select	ENSP00000319814.4:p.Leu181ValfsTer?
ENST00000319441.5:c.540_541insGTGCTGGGTG	ENSP00000319814.4:p.Leu181ValfsTer?
ENST00000467047.1:n.1750_1751insGTGCTGGGTG
ENST00000498194.1:n.482_483insGTGCTGGGTG
NM_002591.3:c.540_541insGTGCTGGGTG	NP_002582.3:p.Leu181ValfsTer?
XM_011528839.1:c.144_145insGTGCTGGGTG	XP_011527141.1:p.Leu49ValfsTer?
XM_024451888.1:c.144_145insGTGCTGGGTG	XP_024307656.1:p.Leu49ValfsTer?
NM_002591.4:c.540_541insGTGCTGGGTG MANE Select	NP_002582.3:p.Leu181ValfsTer?