Canonical Allele Identifier: CA2411007564

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720331_50720352delinsGGCCGCCCCCGGCCTTCTCGCC , CM000684.2:g.50720331_50720352delinsGGCCGCCCCCGGCCTTCTCGCC	GRCh38
NC_000022.10:g.51158759_51158780delinsGGCCGCCCCCGGCCTTCTCGCC , CM000684.1:g.51158759_51158780delinsGGCCGCCCCCGGCCTTCTCGCC	GRCh37
NC_000022.9:g.49505625_49505646delinsGGCCGCCCCCGGCCTTCTCGCC	NCBI36
NG_008607.2:g.50977_50998delinsGGCCGCCCCCGGCCTTCTCGCC
NG_070230.1:g.56115_56136delinsGGCCGCCCCCGGCCTTCTCGCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2099_2120delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000489147.2:p.Gly700=
ENST00000414786.7:n.2683_2704delinsGGCCGCCCCCGGCCTTCTCGCC
ENST00000445220.7:c.1151_1172delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000489407.2:p.Gly384=
ENST00000664402.2:c.641_662delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000499475.1:p.Gly214=
ENST00000673971.2:c.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000501192.1:n.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC
ENST00000445220.6:c.1151_1172delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000489407.2:p.Gly384=
ENST00000262795.6:c.2099_2120delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000489147.2:p.Gly700=
ENST00000664402.1:c.641_662delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000499475.1:p.Gly214=
ENST00000673971.1:c.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000501192.1:n.*1097_*1118delinsGGCCGCCCCCGGCCTTCTCGCC
ENST00000262795.5:c.2495_2516delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000489147.1:p.Gly832=
ENST00000414786.6:n.2683_2704delinsGGCCGCCCCCGGCCTTCTCGCC
ENST00000445220.5:c.2477_2498delinsGGCCGCCCCCGGCCTTCTCGCC	ENSP00000489407.1:p.Gly826=