Canonical Allele Identifier: CA1364789204

Gene: GLYCTK

Linked Data

• dbSNP Id: rs1700534123
• gnomAD v4: 3-52293002-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293004del , CM000665.2:g.52293004del	GRCh38
NC_000003.11:g.52327020del , CM000665.1:g.52327020del	GRCh37
NC_000003.10:g.52302060del	NCBI36
NG_023246.1:g.10185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1450del MANE Select	ENSP00000389175.2:p.Leu484Ter
ENST00000305690.12:c.*569del	ENSP00000301965.9:n.*569del
ENST00000436784.6:c.1450del	ENSP00000389175.2:p.Leu484Ter
ENST00000461183.5:c.764-42del	ENSP00000417264.1:n.764-42del
ENST00000471180.5:c.635-42del	ENSP00000417526.1:n.635-42del
ENST00000473032.5:c.530-42del	ENSP00000418951.1:n.530-42del
ENST00000477382.1:c.*569del	ENSP00000419008.1:n.*569del
ENST00000486393.5:c.*813del	ENSP00000419868.1:n.*813del
ENST00000489173.1:n.1744del
NM_001144951.1:c.*569del	NP_001138423.1:n.*569del
NM_145262.3:c.1450del	NP_660305.2:p.Leu484Ter
NR_026699.1:n.1548del
NR_026700.1:n.696-42del
NR_026701.1:n.1546del
NR_026702.1:n.626-42del
XM_005264878.2:c.*569del	XP_005264935.1:n.*569del
XR_245095.2:n.2743-42del
XM_017005730.1:c.1069del	XP_016861219.1:p.Leu357Ter
XM_024453351.1:c.1450del	XP_024309119.1:p.Leu484Ter
XM_024453352.1:c.*569del	XP_024309120.1:n.*569del
XR_001740022.2:n.3352del
XR_001740023.2:n.2918-42del
XR_245095.4:n.2744-42del
NM_145262.4:c.1450del MANE Select	NP_660305.2:p.Leu484Ter
NR_026699.2:n.1540del
NR_026700.2:n.688-42del
NR_026701.2:n.1538del
NR_026702.2:n.618-42del
NM_001144951.2:c.*569del	NP_001138423.1:n.*569del