Canonical Allele Identifier: CA2411007707

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720596_50720597delinsGC , CM000684.2:g.50720596_50720597delinsGC	GRCh38
NC_000022.10:g.51159024_51159025delinsGC , CM000684.1:g.51159024_51159025delinsGC	GRCh37
NC_000022.9:g.49505890_49505891delinsGC	NCBI36
NG_008607.2:g.51242_51243delinsGC
NG_070230.1:g.56380_56381delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2364_2365delinsGC	ENSP00000489147.2:p.Arg788=
ENST00000414786.7:n.2948_2949delinsGC
ENST00000445220.7:c.1416_1417delinsGC	ENSP00000489407.2:p.Arg472=
ENST00000664402.2:c.906_907delinsGC	ENSP00000499475.1:p.Arg302=
ENST00000673971.2:c.*1362_*1363delinsGC	ENSP00000501192.1:n.*1362_*1363delinsGC
ENST00000445220.6:c.1416_1417delinsGC	ENSP00000489407.2:p.Arg472=
ENST00000262795.6:c.2364_2365delinsGC	ENSP00000489147.2:p.Arg788=
ENST00000664402.1:c.906_907delinsGC	ENSP00000499475.1:p.Arg302=
ENST00000673971.1:c.*1362_*1363delinsGC	ENSP00000501192.1:n.*1362_*1363delinsGC
ENST00000262795.5:c.2760_2761delinsGC	ENSP00000489147.1:p.Arg920=
ENST00000414786.6:n.2948_2949delinsGC
ENST00000445220.5:c.2742_2743delinsGC	ENSP00000489407.1:p.Arg914=