Canonical Allele Identifier: CA2529687719

Gene: PCK1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562829_57562838del , CM000682.2:g.57562829_57562838del	GRCh38
NC_000020.10:g.56137885_56137894del , CM000682.1:g.56137885_56137894del	GRCh37
NC_000020.9:g.55571291_55571300del	NCBI36
NG_008205.1:g.6749_6758del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.540_549del MANE Select	ENSP00000319814.4:p.Leu181TrpfsTer?
ENST00000319441.5:c.540_549del	ENSP00000319814.4:p.Leu181TrpfsTer?
ENST00000467047.1:n.1750_1759del
ENST00000498194.1:n.482_491del
NM_002591.3:c.540_549del	NP_002582.3:p.Leu181TrpfsTer?
XM_011528839.1:c.144_153del	XP_011527141.1:p.Leu49TrpfsTer?
XM_024451888.1:c.144_153del	XP_024307656.1:p.Leu49TrpfsTer?
NM_002591.4:c.540_549del MANE Select	NP_002582.3:p.Leu181TrpfsTer?