Canonical Allele Identifier: CA2371897620
Gene: PCK1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565552_57565553delinsGA , CM000682.2:g.57565552_57565553delinsGA GRCh38
NC_000020.10:g.56140608_56140609delinsGA , CM000682.1:g.56140608_56140609delinsGA GRCh37
NC_000020.9:g.55574014_55574015delinsGA NCBI36
NG_008205.1:g.9472_9473delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1617_1618delinsGA MANE Select ENSP00000319814.4:p.Trp539=
ENST00000319441.5:c.1617_1618delinsGA ENSP00000319814.4:p.Trp539=
ENST00000467047.1:n.4259_4260delinsGA
NM_002591.3:c.1617_1618delinsGA NP_002582.3:p.Trp539=
XM_011528839.1:c.1221_1222delinsGA XP_011527141.1:p.Trp407=
XM_024451888.1:c.1221_1222delinsGA XP_024307656.1:p.Trp407=
NM_002591.4:c.1617_1618delinsGA MANE Select NP_002582.3:p.Trp539=
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