Canonical Allele Identifier: CA2411007713

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720605_50720611delinsGCCCGGC , CM000684.2:g.50720605_50720611delinsGCCCGGC	GRCh38
NC_000022.10:g.51159033_51159039delinsGCCCGGC , CM000684.1:g.51159033_51159039delinsGCCCGGC	GRCh37
NC_000022.9:g.49505899_49505905delinsGCCCGGC	NCBI36
NG_008607.2:g.51251_51257delinsGCCCGGC
NG_070230.1:g.56389_56395delinsGCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2373_2379delinsGCCCGGC	ENSP00000489147.2:p.Pro791=
ENST00000414786.7:n.2957_2963delinsGCCCGGC
ENST00000445220.7:c.1425_1431delinsGCCCGGC	ENSP00000489407.2:p.Pro475=
ENST00000664402.2:c.915_921delinsGCCCGGC	ENSP00000499475.1:p.Pro305=
ENST00000673971.2:c.*1371_*1377delinsGCCCGGC	ENSP00000501192.1:n.*1371_*1377delinsGCCCGGC
ENST00000445220.6:c.1425_1431delinsGCCCGGC	ENSP00000489407.2:p.Pro475=
ENST00000262795.6:c.2373_2379delinsGCCCGGC	ENSP00000489147.2:p.Pro791=
ENST00000664402.1:c.915_921delinsGCCCGGC	ENSP00000499475.1:p.Pro305=
ENST00000673971.1:c.*1371_*1377delinsGCCCGGC	ENSP00000501192.1:n.*1371_*1377delinsGCCCGGC
ENST00000262795.5:c.2769_2775delinsGCCCGGC	ENSP00000489147.1:p.Pro923=
ENST00000414786.6:n.2957_2963delinsGCCCGGC
ENST00000445220.5:c.2751_2757delinsGCCCGGC	ENSP00000489407.1:p.Pro917=