Canonical Allele Identifier: CA2368281445

Gene: SPATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49906118_49906133delinsGGCCGCAGAGCATCCT , CM000682.2:g.49906118_49906133delinsGGCCGCAGAGCATCCT	GRCh38
NC_000020.10:g.48522655_48522670delinsGGCCGCAGAGCATCCT , CM000682.1:g.48522655_48522670delinsGGCCGCAGAGCATCCT	GRCh37
NC_000020.9:g.47956062_47956077delinsGGCCGCAGAGCATCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1049_1064delinsAGGATGCTCTGCGGCC MANE Select	ENSP00000289431.5:p.Gln350=
ENST00000289431.9:c.1049_1064delinsAGGATGCTCTGCGGCC	ENSP00000289431.5:p.Gln350=
ENST00000422556.1:c.1049_1064delinsAGGATGCTCTGCGGCC	ENSP00000416799.1:p.Gln350=
NM_001135773.1:c.1049_1064delinsAGGATGCTCTGCGGCC	NP_001129245.1:p.Gln350=
NM_006038.3:c.1049_1064delinsAGGATGCTCTGCGGCC	NP_006029.1:p.Gln350=
XM_006723894.1:c.1049_1064delinsAGGATGCTCTGCGGCC	XP_006723957.1:p.Gln350=
XM_011529116.1:c.1049_1064delinsAGGATGCTCTGCGGCC	XP_011527418.1:p.Gln350=
NM_006038.4:c.1049_1064delinsAGGATGCTCTGCGGCC MANE Select	NP_006029.1:p.Gln350=
NM_001135773.2:c.1049_1064delinsAGGATGCTCTGCGGCC	NP_001129245.1:p.Gln350=