Canonical Allele Identifier: CA2816822581

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562825_57562826insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG , CM000682.2:g.57562825_57562826insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	GRCh38
NC_000020.10:g.56137881_56137882insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG , CM000682.1:g.56137881_56137882insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	GRCh37
NC_000020.9:g.55571287_55571288insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	NCBI36
NG_008205.1:g.6745_6746insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG MANE Select	ENSP00000319814.4:p.Val180SerfsTer?
ENST00000319441.5:c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	ENSP00000319814.4:p.Val180SerfsTer?
ENST00000467047.1:n.1746_1747insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG
ENST00000498194.1:n.478_479insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG
NM_002591.3:c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	NP_002582.3:p.Val180SerfsTer?
XM_011528839.1:c.140_141insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	XP_011527141.1:p.Val48SerfsTer?
XM_024451888.1:c.140_141insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG	XP_024307656.1:p.Val48SerfsTer?
NM_002591.4:c.536_537insTTCGTGCCTGCCGTCCACAGCGTCGGCATGCCGCTGCTTGAGGG MANE Select	NP_002582.3:p.Val180SerfsTer?