Canonical Allele Identifier: CA2816822628
Gene: PCK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562958_57562959insAAACACACCCAACA , CM000682.2:g.57562958_57562959insAAACACACCCAACA GRCh38
NC_000020.10:g.56138014_56138015insAAACACACCCAACA , CM000682.1:g.56138014_56138015insAAACACACCCAACA GRCh37
NC_000020.9:g.55571420_55571421insAAACACACCCAACA NCBI36
NG_008205.1:g.6878_6879insAAACACACCCAACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.610+59_610+60insAAACACACCCAACA MANE Select ENSP00000319814.4:n.610+59_610+60insAAACACACCCAACA
ENST00000319441.5:c.610+59_610+60insAAACACACCCAACA ENSP00000319814.4:n.610+59_610+60insAAACACACCCAACA
ENST00000467047.1:n.1879_1880insAAACACACCCAACA
ENST00000470051.1:n.125_126insAAACACACCCAACA
ENST00000498194.1:n.552+59_552+60insAAACACACCCAACA
NM_002591.3:c.610+59_610+60insAAACACACCCAACA NP_002582.3:n.610+59_610+60insAAACACACCCAACA
XM_011528839.1:c.214+59_214+60insAAACACACCCAACA XP_011527141.1:n.214+59_214+60insAAACACACCCAACA
XM_024451888.1:c.214+59_214+60insAAACACACCCAACA XP_024307656.1:n.214+59_214+60insAAACACACCCAACA
NM_002591.4:c.610+59_610+60insAAACACACCCAACA MANE Select NP_002582.3:n.610+59_610+60insAAACACACCCAACA