Canonical Allele Identifier: CA2371897563
Gene: PCK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565423_57565424delinsCT , CM000682.2:g.57565423_57565424delinsCT GRCh38
NC_000020.10:g.56140479_56140480delinsCT , CM000682.1:g.56140479_56140480delinsCT GRCh37
NC_000020.9:g.55573885_55573886delinsCT NCBI36
NG_008205.1:g.9343_9344delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1488_1489delinsCT MANE Select ENSP00000319814.4:p.His496=
ENST00000319441.5:c.1488_1489delinsCT ENSP00000319814.4:p.His496=
ENST00000467047.1:n.4130_4131delinsCT
NM_002591.3:c.1488_1489delinsCT NP_002582.3:p.His496=
XM_011528839.1:c.1092_1093delinsCT XP_011527141.1:p.His364=
XM_024451888.1:c.1092_1093delinsCT XP_024307656.1:p.His364=
NM_002591.4:c.1488_1489delinsCT MANE Select NP_002582.3:p.His496=
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