Canonical Allele Identifier: CA2665986865

Gene: GLYCTK

Linked Data

• gnomAD v4: 3-52293055-C-CACAGGGATGACAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52293057_52293058insAGGGATGACAGGTAC , CM000665.2:g.52293057_52293058insAGGGATGACAGGTAC	GRCh38
NC_000003.11:g.52327073_52327074insAGGGATGACAGGTAC , CM000665.1:g.52327073_52327074insAGGGATGACAGGTAC	GRCh37
NC_000003.10:g.52302113_52302114insAGGGATGACAGGTAC	NCBI36
NG_023246.1:g.10238_10239insAGGGATGACAGGTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436784.7:c.1503_1504insAGGGATGACAGGTAC MANE Select	ENSP00000389175.2:p.His501_Leu502insArgAspAspArgTyr
ENST00000436784.6:c.1503_1504insAGGGATGACAGGTAC	ENSP00000389175.2:p.His501_Leu502insArgAspAspArgTyr
ENST00000461183.5:c.775_776insAGGGATGACAGGTAC	ENSP00000417264.1:p.Pro259GlnfsTer3
ENST00000471180.5:c.646_647insAGGGATGACAGGTAC	ENSP00000417526.1:p.Pro216GlnfsTer3
ENST00000473032.5:c.541_542insAGGGATGACAGGTAC	ENSP00000418951.1:p.Pro181GlnfsTer3
ENST00000486393.5:c.*866_*867insAGGGATGACAGGTAC	ENSP00000419868.1:n.*866_*867insAGGGATGACAGGTAC
ENST00000489173.1:n.1797_1798insAGGGATGACAGGTAC
NM_145262.3:c.1503_1504insAGGGATGACAGGTAC	NP_660305.2:p.His501_Leu502insArgAspAspArgTyr
NR_026699.1:n.1601_1602insAGGGATGACAGGTAC
NR_026700.1:n.707_708insAGGGATGACAGGTAC
NR_026701.1:n.1599_1600insAGGGATGACAGGTAC
NR_026702.1:n.637_638insAGGGATGACAGGTAC
XM_005264878.2:c.*622_*623insAGGGATGACAGGTAC	XP_005264935.1:n.*622_*623insAGGGATGACAGGTAC
XR_245095.2:n.2754_2755insAGGGATGACAGGTAC
XM_017005730.1:c.1122_1123insAGGGATGACAGGTAC	XP_016861219.1:p.His374_Leu375insArgAspAspArgTyr
XM_024453351.1:c.1503_1504insAGGGATGACAGGTAC	XP_024309119.1:p.His501_Leu502insArgAspAspArgTyr
XM_024453352.1:c.*622_*623insAGGGATGACAGGTAC	XP_024309120.1:n.*622_*623insAGGGATGACAGGTAC
XR_001740022.2:n.3405_3406insAGGGATGACAGGTAC
XR_001740023.2:n.2929_2930insAGGGATGACAGGTAC
XR_245095.4:n.2755_2756insAGGGATGACAGGTAC
NM_145262.4:c.1503_1504insAGGGATGACAGGTAC MANE Select	NP_660305.2:p.His501_Leu502insArgAspAspArgTyr
NR_026699.2:n.1593_1594insAGGGATGACAGGTAC
NR_026700.2:n.699_700insAGGGATGACAGGTAC
NR_026701.2:n.1591_1592insAGGGATGACAGGTAC
NR_026702.2:n.629_630insAGGGATGACAGGTAC
NM_001144951.2:c.*622_*623insAGGGATGACAGGTAC	NP_001138423.1:n.*622_*623insAGGGATGACAGGTAC