Canonical Allele Identifier: CA44533375
Community Standard Title: NM_001486.4(GCKR):c.549+203_549+204del
Gene: GCKR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27499653_27499654del , CM000664.2:g.27499653_27499654del GRCh38
NC_000002.11:g.27722520_27722521del , CM000664.1:g.27722520_27722521del GRCh37
NC_000002.10:g.27576024_27576025del NCBI36
NG_028024.1:g.7815_7816del

Transcript Alleles

HGVS Amino-acid Change
NM_001486.4:c.549+203_549+204del MANE Select NP_001477.2:n.549+203_549+204del
ENST00000264717.7:c.549+203_549+204del MANE Select ENSP00000264717.2:n.549+203_549+204del
NM_001486.3:c.549+203_549+204del NP_001477.2:n.549+203_549+204del
ENST00000264717.6:c.549+203_549+204del ENSP00000264717.2:n.549+203_549+204del
ENST00000417872.5:c.*29+203_*29+204del ENSP00000398303.1:n.*29+203_*29+204del
ENST00000453813.1:c.465+203_465+204del ENSP00000399463.1:n.465+203_465+204del
ENST00000472290.1:n.571+203_571+204del
XM_011532761.1:c.549+203_549+204del XP_011531063.1:n.549+203_549+204del
XM_011532762.1:c.-22+203_-22+204del XP_011531064.1:n.-22+203_-22+204del
XM_011532763.1:c.549+203_549+204del XP_011531065.1:n.549+203_549+204del
XM_017003796.1:c.-22+203_-22+204del XP_016859285.1:n.-22+203_-22+204del
XR_001738699.1:n.615+203_615+204del