Canonical Allele Identifier: CA658796327

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 522994
• ClinVar RCV Id: RCV000626192
• dbSNP Id: rs1553621315
• MyVariant Identifiers: chr3:g.52324418_52324420del (hg19) ; chr3:g.52290402_52290404del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52290402_52290404del , CM000665.2:g.52290402_52290404del	GRCh38
NC_000003.11:g.52324418_52324420del , CM000665.1:g.52324418_52324420del	GRCh37
NC_000003.10:g.52299458_52299460del	NCBI36
NG_023246.1:g.7583_7585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.60_62del MANE Select	ENSP00000389175.2:p.Trp21del
ENST00000305690.12:c.60_62del	ENSP00000301965.9:p.Trp21del
ENST00000436784.6:c.60_62del	ENSP00000389175.2:p.Trp21del
ENST00000461183.5:c.126-558_126-556del	ENSP00000417264.1:n.126-558_126-556del
ENST00000471180.5:c.-4-558_-4-556del	ENSP00000417526.1:n.-4-558_-4-556del
ENST00000473032.5:c.60_62del	ENSP00000418951.1:p.Trp21del
ENST00000473583.1:n.329_331del
ENST00000477382.1:c.60_62del	ENSP00000419008.1:p.Trp21del
ENST00000486393.5:c.60_62del	ENSP00000419868.1:p.Trp21del
NM_001144951.1:c.60_62del	NP_001138423.1:p.Trp21del
NM_145262.3:c.60_62del	NP_660305.2:p.Trp21del
NR_026699.1:n.156_158del
NR_026700.1:n.58-558_58-556del
NR_026701.1:n.156_158del
NR_026702.1:n.156_158del
XM_005264878.2:c.60_62del	XP_005264935.1:p.Trp21del
XR_245095.2:n.1963_1965del
XM_017005730.1:c.-4-558_-4-556del	XP_016861219.1:n.-4-558_-4-556del
XM_024453351.1:c.60_62del	XP_024309119.1:p.Trp21del
XM_024453352.1:c.60_62del	XP_024309120.1:p.Trp21del
XR_001740022.2:n.1962_1964del
XR_001740023.2:n.1962_1964del
XR_245095.4:n.1964_1966del
NM_145262.4:c.60_62del MANE Select	NP_660305.2:p.Trp21del
NR_026699.2:n.148_150del
NR_026700.2:n.50-558_50-556del
NR_026701.2:n.148_150del
NR_026702.2:n.148_150del
NM_001144951.2:c.60_62del	NP_001138423.1:p.Trp21del