Canonical Allele Identifier: CA1018823252

Gene: PCK1

Linked Data

• gnomAD v3: 20-57562833-G-GGT
• gnomAD v4: 20-57562833-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562833_57562834insGT , CM000682.2:g.57562833_57562834insGT	GRCh38
NC_000020.10:g.56137889_56137890insGT , CM000682.1:g.56137889_56137890insGT	GRCh37
NC_000020.9:g.55571295_55571296insGT	NCBI36
NG_008205.1:g.6753_6754insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.544_545insGT MANE Select	ENSP00000319814.4:p.Glu182GlyfsTer?
ENST00000319441.5:c.544_545insGT	ENSP00000319814.4:p.Glu182GlyfsTer?
ENST00000467047.1:n.1754_1755insGT
ENST00000470051.1:n.1-1_1insGT
ENST00000498194.1:n.486_487insGT
NM_002591.3:c.544_545insGT	NP_002582.3:p.Glu182GlyfsTer?
XM_011528839.1:c.148_149insGT	XP_011527141.1:p.Glu50GlyfsTer?
XM_024451888.1:c.148_149insGT	XP_024307656.1:p.Glu50GlyfsTer?
NM_002591.4:c.544_545insGT MANE Select	NP_002582.3:p.Glu182GlyfsTer?