Canonical Allele Identifier: CA2368281219
Gene: SPATA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905602_49905603delinsGA , CM000682.2:g.49905602_49905603delinsGA GRCh38
NC_000020.10:g.48522139_48522140delinsGA , CM000682.1:g.48522139_48522140delinsGA GRCh37
NC_000020.9:g.47955546_47955547delinsGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.*16_*17delinsTC MANE Select ENSP00000289431.5:n.*16_*17delinsTC
ENST00000289431.9:c.*16_*17delinsTC ENSP00000289431.5:n.*16_*17delinsTC
ENST00000422556.1:c.*16_*17delinsTC ENSP00000416799.1:n.*16_*17delinsTC
NM_001135773.1:c.*16_*17delinsTC NP_001129245.1:n.*16_*17delinsTC
NM_006038.3:c.*16_*17delinsTC NP_006029.1:n.*16_*17delinsTC
XM_006723894.1:c.*16_*17delinsTC XP_006723957.1:n.*16_*17delinsTC
XM_011529116.1:c.*16_*17delinsTC XP_011527418.1:n.*16_*17delinsTC
NM_006038.4:c.*16_*17delinsTC MANE Select NP_006029.1:n.*16_*17delinsTC
NM_001135773.2:c.*16_*17delinsTC NP_001129245.1:n.*16_*17delinsTC