Canonical Allele Identifier: CA2653459853

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562834-A-ACGGCGCCTTCGTGCCCGCCGTCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562834_57562835insCGGCGCCTTCGTGCCCGCCGTCCAC , CM000682.2:g.57562834_57562835insCGGCGCCTTCGTGCCCGCCGTCCAC	GRCh38
NC_000020.10:g.56137890_56137891insCGGCGCCTTCGTGCCCGCCGTCCAC , CM000682.1:g.56137890_56137891insCGGCGCCTTCGTGCCCGCCGTCCAC	GRCh37
NC_000020.9:g.55571296_55571297insCGGCGCCTTCGTGCCCGCCGTCCAC	NCBI36
NG_008205.1:g.6754_6755insCGGCGCCTTCGTGCCCGCCGTCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.545_546insCGGCGCCTTCGTGCCCGCCGTCCAC MANE Select	ENSP00000319814.4:p.Glu182AspfsTer?
ENST00000319441.5:c.545_546insCGGCGCCTTCGTGCCCGCCGTCCAC	ENSP00000319814.4:p.Glu182AspfsTer?
ENST00000467047.1:n.1755_1756insCGGCGCCTTCGTGCCCGCCGTCCAC
ENST00000470051.1:n.1_2insCGGCGCCTTCGTGCCCGCCGTCCAC
ENST00000498194.1:n.487_488insCGGCGCCTTCGTGCCCGCCGTCCAC
NM_002591.3:c.545_546insCGGCGCCTTCGTGCCCGCCGTCCAC	NP_002582.3:p.Glu182AspfsTer?
XM_011528839.1:c.149_150insCGGCGCCTTCGTGCCCGCCGTCCAC	XP_011527141.1:p.Glu50AspfsTer?
XM_024451888.1:c.149_150insCGGCGCCTTCGTGCCCGCCGTCCAC	XP_024307656.1:p.Glu50AspfsTer?
NM_002591.4:c.545_546insCGGCGCCTTCGTGCCCGCCGTCCAC MANE Select	NP_002582.3:p.Glu182AspfsTer?