Canonical Allele Identifier: CA2368281283
Gene: SPATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905773_49905776delinsTTGG , CM000682.2:g.49905773_49905776delinsTTGG GRCh38
NC_000020.10:g.48522310_48522313delinsTTGG , CM000682.1:g.48522310_48522313delinsTTGG GRCh37
NC_000020.9:g.47955717_47955720delinsTTGG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1406_1409delinsCCAA MANE Select ENSP00000289431.5:p.Thr469=
ENST00000289431.9:c.1406_1409delinsCCAA ENSP00000289431.5:p.Thr469=
ENST00000422556.1:c.1406_1409delinsCCAA ENSP00000416799.1:p.Thr469=
NM_001135773.1:c.1406_1409delinsCCAA NP_001129245.1:p.Thr469=
NM_006038.3:c.1406_1409delinsCCAA NP_006029.1:p.Thr469=
XM_006723894.1:c.1406_1409delinsCCAA XP_006723957.1:p.Thr469=
XM_011529116.1:c.1406_1409delinsCCAA XP_011527418.1:p.Thr469=
NM_006038.4:c.1406_1409delinsCCAA MANE Select NP_006029.1:p.Thr469=
NM_001135773.2:c.1406_1409delinsCCAA NP_001129245.1:p.Thr469=