Canonical Allele Identifier: CA2528597520

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562825_57562826insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG , CM000682.2:g.57562825_57562826insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	GRCh38
NC_000020.10:g.56137881_56137882insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG , CM000682.1:g.56137881_56137882insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	GRCh37
NC_000020.9:g.55571287_55571288insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	NCBI36
NG_008205.1:g.6745_6746insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.536_537insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG MANE Select	ENSP00000319814.4:p.Val180PhefsTer?
ENST00000319441.5:c.536_537insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	ENSP00000319814.4:p.Val180PhefsTer?
ENST00000467047.1:n.1746_1747insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG
ENST00000498194.1:n.478_479insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG
NM_002591.3:c.536_537insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	NP_002582.3:p.Val180PhefsTer?
XM_011528839.1:c.140_141insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	XP_011527141.1:p.Val48PhefsTer?
XM_024451888.1:c.140_141insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG	XP_024307656.1:p.Val48PhefsTer?
NM_002591.4:c.536_537insGTTCACAGCGTCGGCATGCCGCTGCTTGAGGG MANE Select	NP_002582.3:p.Val180PhefsTer?