Canonical Allele Identifier: CA2653279898

Gene: SPATA2

Linked Data

• gnomAD v4: 20-49905604-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905608del , CM000682.2:g.49905608del	GRCh38
NC_000020.10:g.48522145del , CM000682.1:g.48522145del	GRCh37
NC_000020.9:g.47955552del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*14del MANE Select	ENSP00000289431.5:n.*14del
ENST00000289431.9:c.*14del	ENSP00000289431.5:n.*14del
ENST00000422556.1:c.*14del	ENSP00000416799.1:n.*14del
NM_001135773.1:c.*14del	NP_001129245.1:n.*14del
NM_006038.3:c.*14del	NP_006029.1:n.*14del
XM_006723894.1:c.*14del	XP_006723957.1:n.*14del
XM_011529116.1:c.*14del	XP_011527418.1:n.*14del
NM_006038.4:c.*14del MANE Select	NP_006029.1:n.*14del
NM_001135773.2:c.*14del	NP_001129245.1:n.*14del