Canonical Allele Identifier: CA2368281360

Gene: SPATA2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.49905936_49905948delinsTGCTGGGGAAGGC , CM000682.2:g.49905936_49905948delinsTGCTGGGGAAGGC	GRCh38
NC_000020.10:g.48522473_48522485delinsTGCTGGGGAAGGC , CM000682.1:g.48522473_48522485delinsTGCTGGGGAAGGC	GRCh37
NC_000020.9:g.47955880_47955892delinsTGCTGGGGAAGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289431.10:c.1234_1246delinsGCCTTCCCCAGCA MANE Select	ENSP00000289431.5:p.Ala412=
ENST00000289431.9:c.1234_1246delinsGCCTTCCCCAGCA	ENSP00000289431.5:p.Ala412=
ENST00000422556.1:c.1234_1246delinsGCCTTCCCCAGCA	ENSP00000416799.1:p.Ala412=
NM_001135773.1:c.1234_1246delinsGCCTTCCCCAGCA	NP_001129245.1:p.Ala412=
NM_006038.3:c.1234_1246delinsGCCTTCCCCAGCA	NP_006029.1:p.Ala412=
XM_006723894.1:c.1234_1246delinsGCCTTCCCCAGCA	XP_006723957.1:p.Ala412=
XM_011529116.1:c.1234_1246delinsGCCTTCCCCAGCA	XP_011527418.1:p.Ala412=
NM_006038.4:c.1234_1246delinsGCCTTCCCCAGCA MANE Select	NP_006029.1:p.Ala412=
NM_001135773.2:c.1234_1246delinsGCCTTCCCCAGCA	NP_001129245.1:p.Ala412=