Canonical Allele Identifier: CA2653279806

Gene: SPATA2

Linked Data

• gnomAD v4: 20-49905544-CGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905545_49905546del , CM000682.2:g.49905545_49905546del	GRCh38
NC_000020.10:g.48522082_48522083del , CM000682.1:g.48522082_48522083del	GRCh37
NC_000020.9:g.47955489_47955490del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.*73_*74del MANE Select	ENSP00000289431.5:n.*73_*74del
ENST00000289431.9:c.*73_*74del	ENSP00000289431.5:n.*73_*74del
ENST00000422556.1:c.*73_*74del	ENSP00000416799.1:n.*73_*74del
NM_001135773.1:c.*73_*74del	NP_001129245.1:n.*73_*74del
NM_006038.3:c.*73_*74del	NP_006029.1:n.*73_*74del
XM_006723894.1:c.*73_*74del	XP_006723957.1:n.*73_*74del
XM_011529116.1:c.*73_*74del	XP_011527418.1:n.*73_*74del
NM_006038.4:c.*73_*74del MANE Select	NP_006029.1:n.*73_*74del
NM_001135773.2:c.*73_*74del	NP_001129245.1:n.*73_*74del