Canonical Allele Identifier: CA920241493

Gene: PCK1

Linked Data

• dbSNP Id: rs1600706939

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562850_57562851insTGGGCACTGGTGAGAAAT , CM000682.2:g.57562850_57562851insTGGGCACTGGTGAGAAAT	GRCh38
NC_000020.10:g.56137906_56137907insTGGGCACTGGTGAGAAAT , CM000682.1:g.56137906_56137907insTGGGCACTGGTGAGAAAT	GRCh37
NC_000020.9:g.55571312_55571313insTGGGCACTGGTGAGAAAT	NCBI36
NG_008205.1:g.6770_6771insTGGGCACTGGTGAGAAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.561_562insTGGGCACTGGTGAGAAAT MANE Select	ENSP00000319814.4:p.Gly187_Glu188insTrpAlaLeuValArgAsn
ENST00000319441.5:c.561_562insTGGGCACTGGTGAGAAAT	ENSP00000319814.4:p.Gly187_Glu188insTrpAlaLeuValArgAsn
ENST00000467047.1:n.1771_1772insTGGGCACTGGTGAGAAAT
ENST00000470051.1:n.17_18insTGGGCACTGGTGAGAAAT
ENST00000498194.1:n.503_504insTGGGCACTGGTGAGAAAT
NM_002591.3:c.561_562insTGGGCACTGGTGAGAAAT	NP_002582.3:p.Gly187_Glu188insTrpAlaLeuValArgAsn
XM_011528839.1:c.165_166insTGGGCACTGGTGAGAAAT	XP_011527141.1:p.Gly55_Glu56insTrpAlaLeuValArgAsn
XM_024451888.1:c.165_166insTGGGCACTGGTGAGAAAT	XP_024307656.1:p.Gly55_Glu56insTrpAlaLeuValArgAsn
NM_002591.4:c.561_562insTGGGCACTGGTGAGAAAT MANE Select	NP_002582.3:p.Gly187_Glu188insTrpAlaLeuValArgAsn