Canonical Allele Identifier: CA2653279845

Gene: SPATA2

Linked Data

• gnomAD v4: 20-49905566-A-AGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905566_49905567insGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG , CM000682.2:g.49905566_49905567insGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG	GRCh38
NC_000020.10:g.48522103_48522104insGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG , CM000682.1:g.48522103_48522104insGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG	GRCh37
NC_000020.9:g.47955510_47955511insGAGAAGAGGATTGAGATGGAGGGGCAGTAGGAATCCCAAATGATTTTCCTTCTGAAACGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC MANE Select	ENSP00000289431.5:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTC...
ENST00000289431.9:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	ENSP00000289431.5:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTC...
ENST00000422556.1:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	ENSP00000416799.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTC...
NM_001135773.1:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	NP_001129245.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTA...
NM_006038.3:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	NP_006029.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTG...
XM_006723894.1:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	XP_006723957.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTA...
XM_011529116.1:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	XP_011527418.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTA...
NM_006038.4:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC MANE Select	NP_006029.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTG...
NM_001135773.2:c.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTACTGCCCCTCCATCTCAATCCTCTTCTC	NP_001129245.1:n.*52_*53insCTCGTTTCAGAAGGAAAATCATTTGGGATTCCTA...