Canonical Allele Identifier: CA2432144
Community Standard Title: NM_145262.4(GLYCTK):c.678del (p.Leu227TrpfsTer11)
Gene: GLYCTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52291895del , CM000665.2:g.52291895del GRCh38
NC_000003.11:g.52325911del , CM000665.1:g.52325911del GRCh37
NC_000003.10:g.52300951del NCBI36
NG_023246.1:g.9076del

Transcript Alleles

HGVS Amino-acid Change
NM_145262.4:c.678del MANE Select NP_660305.2:p.Leu227TrpfsTer11
ENST00000436784.7:c.678del MANE Select ENSP00000389175.2:p.Leu227TrpfsTer11
NM_001144951.1:c.530-365del NP_001138423.1:n.530-365del
NM_001144951.2:c.530-365del NP_001138423.1:n.530-365del
NM_145262.3:c.678del NP_660305.2:p.Leu227TrpfsTer11
NR_026699.1:n.776del
NR_026699.2:n.768del
NR_026700.1:n.358del
NR_026700.2:n.350del
NR_026701.1:n.774del
NR_026701.2:n.766del
NR_026702.1:n.625+784del
NR_026702.2:n.617+784del
ENST00000305690.12:c.530-365del ENSP00000301965.9:n.530-365del
ENST00000436784.6:c.678del ENSP00000389175.2:p.Leu227TrpfsTer11
ENST00000461183.5:c.426del ENSP00000417264.1:p.Leu143TrpfsTer11
ENST00000471180.5:c.297del ENSP00000417526.1:p.Leu100TrpfsTer11
ENST00000473032.5:c.529+784del ENSP00000418951.1:n.529+784del
ENST00000473583.1:n.799-365del
ENST00000477382.1:c.530-365del ENSP00000419008.1:n.530-365del
ENST00000486393.5:c.*41del ENSP00000419868.1:n.*41del
ENST00000489173.1:n.972del
XM_005264878.2:c.530-365del XP_005264935.1:n.530-365del
XM_017005730.1:c.297del XP_016861219.1:p.Leu100TrpfsTer11
XM_024453351.1:c.678del XP_024309119.1:p.Leu227TrpfsTer11
XM_024453352.1:c.530-365del XP_024309120.1:n.530-365del
XR_001740022.2:n.2580del
XR_001740023.2:n.2580del
XR_245095.2:n.2433-365del
XR_245095.4:n.2434-365del