Canonical Allele Identifier: CA2500765339
Gene: PCK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562836_57562837insGTGCCTTCGTGCCCGCCGTTCA , CM000682.2:g.57562836_57562837insGTGCCTTCGTGCCCGCCGTTCA GRCh38
NC_000020.10:g.56137892_56137893insGTGCCTTCGTGCCCGCCGTTCA , CM000682.1:g.56137892_56137893insGTGCCTTCGTGCCCGCCGTTCA GRCh37
NC_000020.9:g.55571298_55571299insGTGCCTTCGTGCCCGCCGTTCA NCBI36
NG_008205.1:g.6756_6757insGTGCCTTCGTGCCCGCCGTTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.547_548insGTGCCTTCGTGCCCGCCGTTCA MANE Select ENSP00000319814.4:p.Ala183GlyfsTer?
ENST00000319441.5:c.547_548insGTGCCTTCGTGCCCGCCGTTCA ENSP00000319814.4:p.Ala183GlyfsTer?
ENST00000467047.1:n.1757_1758insGTGCCTTCGTGCCCGCCGTTCA
ENST00000470051.1:n.3_4insGTGCCTTCGTGCCCGCCGTTCA
ENST00000498194.1:n.489_490insGTGCCTTCGTGCCCGCCGTTCA
NM_002591.3:c.547_548insGTGCCTTCGTGCCCGCCGTTCA NP_002582.3:p.Ala183GlyfsTer?
XM_011528839.1:c.151_152insGTGCCTTCGTGCCCGCCGTTCA XP_011527141.1:p.Ala51GlyfsTer?
XM_024451888.1:c.151_152insGTGCCTTCGTGCCCGCCGTTCA XP_024307656.1:p.Ala51GlyfsTer?
NM_002591.4:c.547_548insGTGCCTTCGTGCCCGCCGTTCA MANE Select NP_002582.3:p.Ala183GlyfsTer?