Canonical Allele Identifier: CA2371896344
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070162618

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562924_57562925del , CM000682.2:g.57562924_57562925del GRCh38
NC_000020.10:g.56137980_56137981del , CM000682.1:g.56137980_56137981del GRCh37
NC_000020.9:g.55571386_55571387del NCBI36
NG_008205.1:g.6844_6845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.610+25_610+26del MANE Select ENSP00000319814.4:n.610+25_610+26del
ENST00000319441.5:c.610+25_610+26del ENSP00000319814.4:n.610+25_610+26del
ENST00000467047.1:n.1845_1846del
ENST00000470051.1:n.91_92del
ENST00000498194.1:n.552+25_552+26del
NM_002591.3:c.610+25_610+26del NP_002582.3:n.610+25_610+26del
XM_011528839.1:c.214+25_214+26del XP_011527141.1:n.214+25_214+26del
XM_024451888.1:c.214+25_214+26del XP_024307656.1:n.214+25_214+26del
NM_002591.4:c.610+25_610+26del MANE Select NP_002582.3:n.610+25_610+26del