Canonical Allele Identifier: CA433882932

Gene: GLYCTK

Linked Data

• ClinVar Variation Id: 1696022
• ClinVar RCV Id: RCV002266165 ; RCV003096006
• dbSNP Id: rs1700517033
• MyVariant Identifiers: chr3:g.52326625del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292611del , CM000665.2:g.52292611del	GRCh38
NC_000003.11:g.52326627del , CM000665.1:g.52326627del	GRCh37
NC_000003.10:g.52301667del	NCBI36
NG_023246.1:g.9792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1057del MANE Select	ENSP00000389175.2:p.His353MetfsTer?
ENST00000305690.12:c.*176del	ENSP00000301965.9:n.*176del
ENST00000436784.6:c.1057del	ENSP00000389175.2:p.His353MetfsTer?
ENST00000461183.5:c.763+42del	ENSP00000417264.1:n.763+42del
ENST00000471180.5:c.634+42del	ENSP00000417526.1:n.634+42del
ENST00000473032.5:c.530-435del	ENSP00000418951.1:n.530-435del
ENST00000477382.1:c.*176del	ENSP00000419008.1:n.*176del
ENST00000486393.5:c.*420del	ENSP00000419868.1:n.*420del
ENST00000489173.1:n.1351del
NM_001144951.1:c.*176del	NP_001138423.1:n.*176del
NM_145262.3:c.1057del	NP_660305.2:p.His353MetfsTer?
NR_026699.1:n.1155del
NR_026700.1:n.695+42del
NR_026701.1:n.1153del
NR_026702.1:n.626-435del
XM_005264878.2:c.*176del	XP_005264935.1:n.*176del
XR_245095.2:n.2742+42del
XM_017005730.1:c.676del	XP_016861219.1:p.His226MetfsTer?
XM_024453351.1:c.1057del	XP_024309119.1:p.His353MetfsTer?
XM_024453352.1:c.*176del	XP_024309120.1:n.*176del
XR_001740022.2:n.2959del
XR_001740023.2:n.2917+42del
XR_245095.4:n.2743+42del
NM_145262.4:c.1057del MANE Select	NP_660305.2:p.His353MetfsTer?
NR_026699.2:n.1147del
NR_026700.2:n.687+42del
NR_026701.2:n.1145del
NR_026702.2:n.618-435del
NM_001144951.2:c.*176del	NP_001138423.1:n.*176del