Canonical Allele Identifier: CA2432249

Gene: GLYCTK

Linked Data

• dbSNP Id: rs754427219
• ExAC: 3:52326633 GC / G
• gnomAD v2: 3-52326633-GC-G
• gnomAD v4: 3-52292617-GC-G
• MyVariant Identifiers: chr3:g.52326634del (hg19) ; chr3:g.52292618del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52292618del , CM000665.2:g.52292618del	GRCh38
NC_000003.11:g.52326634del , CM000665.1:g.52326634del	GRCh37
NC_000003.10:g.52301674del	NCBI36
NG_023246.1:g.9799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1064del MANE Select	ENSP00000389175.2:p.Ala355ValfsTer?
ENST00000305690.12:c.*183del	ENSP00000301965.9:n.*183del
ENST00000436784.6:c.1064del	ENSP00000389175.2:p.Ala355ValfsTer?
ENST00000461183.5:c.763+49del	ENSP00000417264.1:n.763+49del
ENST00000471180.5:c.634+49del	ENSP00000417526.1:n.634+49del
ENST00000473032.5:c.530-428del	ENSP00000418951.1:n.530-428del
ENST00000477382.1:c.*183del	ENSP00000419008.1:n.*183del
ENST00000486393.5:c.*427del	ENSP00000419868.1:n.*427del
ENST00000489173.1:n.1358del
NM_001144951.1:c.*183del	NP_001138423.1:n.*183del
NM_145262.3:c.1064del	NP_660305.2:p.Ala355ValfsTer?
NR_026699.1:n.1162del
NR_026700.1:n.695+49del
NR_026701.1:n.1160del
NR_026702.1:n.626-428del
XM_005264878.2:c.*183del	XP_005264935.1:n.*183del
XR_245095.2:n.2742+49del
XM_017005730.1:c.683del	XP_016861219.1:p.Ala228ValfsTer?
XM_024453351.1:c.1064del	XP_024309119.1:p.Ala355ValfsTer?
XM_024453352.1:c.*183del	XP_024309120.1:n.*183del
XR_001740022.2:n.2966del
XR_001740023.2:n.2917+49del
XR_245095.4:n.2743+49del
NM_145262.4:c.1064del MANE Select	NP_660305.2:p.Ala355ValfsTer?
NR_026699.2:n.1154del
NR_026700.2:n.687+49del
NR_026701.2:n.1152del
NR_026702.2:n.618-428del
NM_001144951.2:c.*183del	NP_001138423.1:n.*183del