Canonical Allele Identifier: CA2432337

Gene: GLYCTK

Linked Data

• dbSNP Id: rs749082610
• ExAC: 3:52327042 CCTT / C
• gnomAD v2: 3-52327042-CCTT-C
• gnomAD v3: 3-52293026-CCTT-C
• gnomAD v4: 3-52293026-CCTT-C
• MyVariant Identifiers: chr3:g.52327043_52327045del (hg19) ; chr3:g.52293027_52293029del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293032_52293034del , CM000665.2:g.52293032_52293034del	GRCh38
NC_000003.11:g.52327048_52327050del , CM000665.1:g.52327048_52327050del	GRCh37
NC_000003.10:g.52302088_52302090del	NCBI36
NG_023246.1:g.10213_10215del

Transcript Alleles

HGVS	Amino-acid change
ENST00000436784.7:c.1478_1480del MANE Select	ENSP00000389175.2:p.Phe493del
ENST00000436784.6:c.1478_1480del	ENSP00000389175.2:p.Phe493del
ENST00000461183.5:c.764-14_764-12del	ENSP00000417264.1:n.764-14_764-12del
ENST00000471180.5:c.635-14_635-12del	ENSP00000417526.1:n.635-14_635-12del
ENST00000473032.5:c.530-14_530-12del	ENSP00000418951.1:n.530-14_530-12del
ENST00000486393.5:c.*841_*843del	ENSP00000419868.1:n.*841_*843del
ENST00000489173.1:n.1772_1774del
NM_145262.3:c.1478_1480del	NP_660305.2:p.Phe493del
NR_026699.1:n.1576_1578del
NR_026700.1:n.696-14_696-12del
NR_026701.1:n.1574_1576del
NR_026702.1:n.626-14_626-12del
XM_005264878.2:c.*597_*599del	XP_005264935.1:n.*597_*599del
XR_245095.2:n.2743-14_2743-12del
XM_017005730.1:c.1097_1099del	XP_016861219.1:p.Phe366del
XM_024453351.1:c.1478_1480del	XP_024309119.1:p.Phe493del
XM_024453352.1:c.*597_*599del	XP_024309120.1:n.*597_*599del
XR_001740022.2:n.3380_3382del
XR_001740023.2:n.2918-14_2918-12del
XR_245095.4:n.2744-14_2744-12del
NM_145262.4:c.1478_1480del MANE Select	NP_660305.2:p.Phe493del
NR_026699.2:n.1568_1570del
NR_026700.2:n.688-14_688-12del
NR_026701.2:n.1566_1568del
NR_026702.2:n.618-14_618-12del
NM_001144951.2:c.*597_*599del	NP_001138423.1:n.*597_*599del