Canonical Allele Identifier: CA2653459847

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562832-G-GGGCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562833_57562834insGCGCTG , CM000682.2:g.57562833_57562834insGCGCTG	GRCh38
NC_000020.10:g.56137889_56137890insGCGCTG , CM000682.1:g.56137889_56137890insGCGCTG	GRCh37
NC_000020.9:g.55571295_55571296insGCGCTG	NCBI36
NG_008205.1:g.6753_6754insGCGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.544_545insGCGCTG MANE Select	ENSP00000319814.4:p.Leu181_Glu182insGlyAla
ENST00000319441.5:c.544_545insGCGCTG	ENSP00000319814.4:p.Leu181_Glu182insGlyAla
ENST00000467047.1:n.1754_1755insGCGCTG
ENST00000498194.1:n.486_487insGCGCTG
NM_002591.3:c.544_545insGCGCTG	NP_002582.3:p.Leu181_Glu182insGlyAla
XM_011528839.1:c.148_149insGCGCTG	XP_011527141.1:p.Leu49_Glu50insGlyAla
XM_024451888.1:c.148_149insGCGCTG	XP_024307656.1:p.Leu49_Glu50insGlyAla
NM_002591.4:c.544_545insGCGCTG MANE Select	NP_002582.3:p.Leu181_Glu182insGlyAla