Canonical Allele Identifier: CA2536699817

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562829-C-CGTGCTGGGTA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562829_57562830insGTGCTGGGTA , CM000682.2:g.57562829_57562830insGTGCTGGGTA	GRCh38
NC_000020.10:g.56137885_56137886insGTGCTGGGTA , CM000682.1:g.56137885_56137886insGTGCTGGGTA	GRCh37
NC_000020.9:g.55571291_55571292insGTGCTGGGTA	NCBI36
NG_008205.1:g.6749_6750insGTGCTGGGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.540_541insGTGCTGGGTA MANE Select	ENSP00000319814.4:p.Leu181ValfsTer?
ENST00000319441.5:c.540_541insGTGCTGGGTA	ENSP00000319814.4:p.Leu181ValfsTer?
ENST00000467047.1:n.1750_1751insGTGCTGGGTA
ENST00000498194.1:n.482_483insGTGCTGGGTA
NM_002591.3:c.540_541insGTGCTGGGTA	NP_002582.3:p.Leu181ValfsTer?
XM_011528839.1:c.144_145insGTGCTGGGTA	XP_011527141.1:p.Leu49ValfsTer?
XM_024451888.1:c.144_145insGTGCTGGGTA	XP_024307656.1:p.Leu49ValfsTer?
NM_002591.4:c.540_541insGTGCTGGGTA MANE Select	NP_002582.3:p.Leu181ValfsTer?