Canonical Allele Identifier: CA2432366

Gene: GLYCTK

Linked Data

• dbSNP Id: rs776183482
• ExAC: 3:52327218 CAG / C
• gnomAD v2: 3-52327218-CAG-C
• gnomAD v3: 3-52293202-CAG-C
• gnomAD v4: 3-52293202-CAG-C
• MyVariant Identifiers: chr3:g.52327219_52327220del (hg19) ; chr3:g.52293203_52293204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293203_52293204del , CM000665.2:g.52293203_52293204del	GRCh38
NC_000003.11:g.52327219_52327220del , CM000665.1:g.52327219_52327220del	GRCh37
NC_000003.10:g.52302259_52302260del	NCBI36
NG_023246.1:g.10384_10385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.*77_*78del MANE Select	ENSP00000389175.2:n.*77_*78del
ENST00000436784.6:c.*77_*78del	ENSP00000389175.2:n.*77_*78del
ENST00000471180.5:c.*58+11_*58+12del	ENSP00000417526.1:n.*58+11_*58+12del
ENST00000473032.5:c.*58+11_*58+12del	ENSP00000418951.1:n.*58+11_*58+12del
ENST00000486393.5:c.*1012_*1013del	ENSP00000419868.1:n.*1012_*1013del
ENST00000489173.1:n.1914+29_1914+30del
NM_145262.3:c.*77_*78del	NP_660305.2:n.*77_*78del
NR_026699.1:n.1747_1748del
NR_026700.1:n.842+11_842+12del
NR_026701.1:n.1734+11_1734+12del
NR_026702.1:n.772+11_772+12del
XM_005264878.2:c.*768_*769del	XP_005264935.1:n.*768_*769del
XR_245095.2:n.2889+11_2889+12del
XM_017005730.1:c.*77_*78del	XP_016861219.1:n.*77_*78del
XM_024453351.1:c.*77_*78del	XP_024309119.1:n.*77_*78del
XM_024453352.1:c.*768_*769del	XP_024309120.1:n.*768_*769del
XR_001740022.2:n.3540+11_3540+12del
XR_001740023.2:n.3064+11_3064+12del
XR_245095.4:n.2890+11_2890+12del
NM_145262.4:c.*77_*78del MANE Select	NP_660305.2:n.*77_*78del
NR_026699.2:n.1739_1740del
NR_026700.2:n.834+11_834+12del
NR_026701.2:n.1726+11_1726+12del
NR_026702.2:n.764+11_764+12del
NM_001144951.2:c.*768_*769del	NP_001138423.1:n.*768_*769del