Canonical Allele Identifier: CA2554207623

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562830_57562831insACAGCGTCGGCA , CM000682.2:g.57562830_57562831insACAGCGTCGGCA	GRCh38
NC_000020.10:g.56137886_56137887insACAGCGTCGGCA , CM000682.1:g.56137886_56137887insACAGCGTCGGCA	GRCh37
NC_000020.9:g.55571292_55571293insACAGCGTCGGCA	NCBI36
NG_008205.1:g.6750_6751insACAGCGTCGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.541_542insACAGCGTCGGCA MANE Select	ENSP00000319814.4:p.Leu181delinsHisSerValGlyMet
ENST00000319441.5:c.541_542insACAGCGTCGGCA	ENSP00000319814.4:p.Leu181delinsHisSerValGlyMet
ENST00000467047.1:n.1751_1752insACAGCGTCGGCA
ENST00000498194.1:n.483_484insACAGCGTCGGCA
NM_002591.3:c.541_542insACAGCGTCGGCA	NP_002582.3:p.Leu181delinsHisSerValGlyMet
XM_011528839.1:c.145_146insACAGCGTCGGCA	XP_011527141.1:p.Leu49delinsHisSerValGlyMet
XM_024451888.1:c.145_146insACAGCGTCGGCA	XP_024307656.1:p.Leu49delinsHisSerValGlyMet
NM_002591.4:c.541_542insACAGCGTCGGCA MANE Select	NP_002582.3:p.Leu181delinsHisSerValGlyMet