Canonical Allele Identifier: CA2569575452
Gene: PCK1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562822_57562823insCCGTGTGGGACGTGCTGGGTACTGACGGT , CM000682.2:g.57562822_57562823insCCGTGTGGGACGTGCTGGGTACTGACGGT GRCh38
NC_000020.10:g.56137878_56137879insCCGTGTGGGACGTGCTGGGTACTGACGGT , CM000682.1:g.56137878_56137879insCCGTGTGGGACGTGCTGGGTACTGACGGT GRCh37
NC_000020.9:g.55571284_55571285insCCGTGTGGGACGTGCTGGGTACTGACGGT NCBI36
NG_008205.1:g.6742_6743insCCGTGTGGGACGTGCTGGGTACTGACGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT MANE Select ENSP00000319814.4:p.Pro179ArgfsTer8
ENST00000319441.5:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT ENSP00000319814.4:p.Pro179ArgfsTer8
ENST00000467047.1:n.1743_1744insCCGTGTGGGACGTGCTGGGTACTGACGGT
ENST00000498194.1:n.475_476insCCGTGTGGGACGTGCTGGGTACTGACGGT
NM_002591.3:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT NP_002582.3:p.Pro179ArgfsTer8
XM_011528839.1:c.137_138insCCGTGTGGGACGTGCTGGGTACTGACGGT XP_011527141.1:p.Pro47ArgfsTer8
XM_024451888.1:c.137_138insCCGTGTGGGACGTGCTGGGTACTGACGGT XP_024307656.1:p.Pro47ArgfsTer8
NM_002591.4:c.533_534insCCGTGTGGGACGTGCTGGGTACTGACGGT MANE Select NP_002582.3:p.Pro179ArgfsTer8
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