Canonical Allele Identifier: CA1018246841

Gene: SPATA2

Linked Data

• gnomAD v3: 20-49905783-CTGGGCG-C
• gnomAD v4: 20-49905783-CTGGGCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905784_49905789del , CM000682.2:g.49905784_49905789del	GRCh38
NC_000020.10:g.48522321_48522326del , CM000682.1:g.48522321_48522326del	GRCh37
NC_000020.9:g.47955728_47955733del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1393_1398del MANE Select	ENSP00000289431.5:p.Arg465_Pro466del
ENST00000289431.9:c.1393_1398del	ENSP00000289431.5:p.Arg465_Pro466del
ENST00000422556.1:c.1393_1398del	ENSP00000416799.1:p.Arg465_Pro466del
NM_001135773.1:c.1393_1398del	NP_001129245.1:p.Arg465_Pro466del
NM_006038.3:c.1393_1398del	NP_006029.1:p.Arg465_Pro466del
XM_006723894.1:c.1393_1398del	XP_006723957.1:p.Arg465_Pro466del
XM_011529116.1:c.1393_1398del	XP_011527418.1:p.Arg465_Pro466del
NM_006038.4:c.1393_1398del MANE Select	NP_006029.1:p.Arg465_Pro466del
NM_001135773.2:c.1393_1398del	NP_001129245.1:p.Arg465_Pro466del