Canonical Allele Identifier: CA2524101159

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT , CM000682.2:g.57562828_57562829insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	GRCh38
NC_000020.10:g.56137884_56137885insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT , CM000682.1:g.56137884_56137885insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	GRCh37
NC_000020.9:g.55571290_55571291insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	NCBI36
NG_008205.1:g.6748_6749insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT MANE Select	ENSP00000319814.4:p.Leu181TrpfsTer?
ENST00000319441.5:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	ENSP00000319814.4:p.Leu181TrpfsTer?
ENST00000467047.1:n.1749_1750insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT
ENST00000498194.1:n.481_482insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT
NM_002591.3:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	NP_002582.3:p.Leu181TrpfsTer?
XM_011528839.1:c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	XP_011527141.1:p.Leu49TrpfsTer?
XM_024451888.1:c.143_144insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT	XP_024307656.1:p.Leu49TrpfsTer?
NM_002591.4:c.539_540insGTGGGACGTGCTGGGTACTGACGGTGCCTTCGTGCCTGCCGTT MANE Select	NP_002582.3:p.Leu181TrpfsTer?