Canonical Allele Identifier: CA2432316

Gene: GLYCTK

Linked Data

• dbSNP Id: rs777622209
• ExAC: 3:52326964 T / TCA
• gnomAD v2: 3-52326964-T-TCA
• gnomAD v3: 3-52292948-T-TCA
• gnomAD v4: 3-52292948-T-TCA
• MyVariant Identifiers: chr3:g.52326964_52326965insCA (hg19) ; chr3:g.52292948_52292949insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292952_52292953dup , CM000665.2:g.52292952_52292953dup	GRCh38
NC_000003.11:g.52326968_52326969dup , CM000665.1:g.52326968_52326969dup	GRCh37
NC_000003.10:g.52302008_52302009dup	NCBI36
NG_023246.1:g.10133_10134dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1398_1399dup MANE Select	ENSP00000389175.2:p.Pro467HisfsTer15
ENST00000305690.12:c.*517_*518dup	ENSP00000301965.9:n.*517_*518dup
ENST00000436784.6:c.1398_1399dup	ENSP00000389175.2:p.Pro467HisfsTer15
ENST00000461183.5:c.764-94_764-93dup	ENSP00000417264.1:n.764-94_764-93dup
ENST00000471180.5:c.635-94_635-93dup	ENSP00000417526.1:n.635-94_635-93dup
ENST00000473032.5:c.530-94_530-93dup	ENSP00000418951.1:n.530-94_530-93dup
ENST00000477382.1:c.*517_*518dup	ENSP00000419008.1:n.*517_*518dup
ENST00000486393.5:c.*761_*762dup	ENSP00000419868.1:n.*761_*762dup
ENST00000489173.1:n.1692_1693dup
NM_001144951.1:c.*517_*518dup	NP_001138423.1:n.*517_*518dup
NM_145262.3:c.1398_1399dup	NP_660305.2:p.Pro467HisfsTer15
NR_026699.1:n.1496_1497dup
NR_026700.1:n.696-94_696-93dup
NR_026701.1:n.1494_1495dup
NR_026702.1:n.626-94_626-93dup
XM_005264878.2:c.*517_*518dup	XP_005264935.1:n.*517_*518dup
XR_245095.2:n.2743-94_2743-93dup
XM_017005730.1:c.1017_1018dup	XP_016861219.1:p.Pro340HisfsTer15
XM_024453351.1:c.1398_1399dup	XP_024309119.1:p.Pro467HisfsTer15
XM_024453352.1:c.*517_*518dup	XP_024309120.1:n.*517_*518dup
XR_001740022.2:n.3300_3301dup
XR_001740023.2:n.2918-94_2918-93dup
XR_245095.4:n.2744-94_2744-93dup
NM_145262.4:c.1398_1399dup MANE Select	NP_660305.2:p.Pro467HisfsTer15
NR_026699.2:n.1488_1489dup
NR_026700.2:n.688-94_688-93dup
NR_026701.2:n.1486_1487dup
NR_026702.2:n.618-94_618-93dup
NM_001144951.2:c.*517_*518dup	NP_001138423.1:n.*517_*518dup