Canonical Allele Identifier: CA2432302

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1321649
• ClinVar RCV Id: RCV001779741
• dbSNP Id: rs769748483
• ExAC: 3:52326905 G / GT
• gnomAD v2: 3-52326905-G-GT
• gnomAD v4: 3-52292889-G-GT
• MyVariant Identifiers: chr3:g.52326905_52326906insT (hg19) ; chr3:g.52292889_52292890insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292894dup , CM000665.2:g.52292894dup	GRCh38
NC_000003.11:g.52326910dup , CM000665.1:g.52326910dup	GRCh37
NC_000003.10:g.52301950dup	NCBI36
NG_023246.1:g.10075dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1340dup MANE Select	ENSP00000389175.2:p.Leu447PhefsTer22
ENST00000305690.12:c.*459dup	ENSP00000301965.9:n.*459dup
ENST00000436784.6:c.1340dup	ENSP00000389175.2:p.Leu447PhefsTer22
ENST00000461183.5:c.764-152dup	ENSP00000417264.1:n.764-152dup
ENST00000471180.5:c.635-152dup	ENSP00000417526.1:n.635-152dup
ENST00000473032.5:c.530-152dup	ENSP00000418951.1:n.530-152dup
ENST00000477382.1:c.*459dup	ENSP00000419008.1:n.*459dup
ENST00000486393.5:c.*703dup	ENSP00000419868.1:n.*703dup
ENST00000489173.1:n.1634dup
NM_001144951.1:c.*459dup	NP_001138423.1:n.*459dup
NM_145262.3:c.1340dup	NP_660305.2:p.Leu447PhefsTer22
NR_026699.1:n.1438dup
NR_026700.1:n.696-152dup
NR_026701.1:n.1436dup
NR_026702.1:n.626-152dup
XM_005264878.2:c.*459dup	XP_005264935.1:n.*459dup
XR_245095.2:n.2743-152dup
XM_017005730.1:c.959dup	XP_016861219.1:p.Leu320PhefsTer22
XM_024453351.1:c.1340dup	XP_024309119.1:p.Leu447PhefsTer22
XM_024453352.1:c.*459dup	XP_024309120.1:n.*459dup
XR_001740022.2:n.3242dup
XR_001740023.2:n.2918-152dup
XR_245095.4:n.2744-152dup
NM_145262.4:c.1340dup MANE Select	NP_660305.2:p.Leu447PhefsTer22
NR_026699.2:n.1430dup
NR_026700.2:n.688-152dup
NR_026701.2:n.1428dup
NR_026702.2:n.618-152dup
NM_001144951.2:c.*459dup	NP_001138423.1:n.*459dup