Canonical Allele Identifier: CA2411008601

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722060_50722061delinsGC , CM000684.2:g.50722060_50722061delinsGC	GRCh38
NC_000022.10:g.51160488_51160489delinsGC , CM000684.1:g.51160488_51160489delinsGC	GRCh37
NC_000022.9:g.49507354_49507355delinsGC	NCBI36
NG_008607.2:g.52706_52707delinsGC
NG_070230.1:g.57844_57845delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3828_3829delinsGC	ENSP00000489147.2:p.Lys1276=
ENST00000414786.7:n.4412_4413delinsGC
ENST00000445220.7:c.2880_2881delinsGC	ENSP00000489407.2:p.Lys960=
ENST00000664402.2:c.2370_2371delinsGC	ENSP00000499475.1:p.Lys790=
ENST00000673971.2:c.*2826_*2827delinsGC	ENSP00000501192.1:n.*2826_*2827delinsGC
ENST00000445220.6:c.2880_2881delinsGC	ENSP00000489407.2:p.Lys960=
ENST00000262795.6:c.3828_3829delinsGC	ENSP00000489147.2:p.Lys1276=
ENST00000664402.1:c.2370_2371delinsGC	ENSP00000499475.1:p.Lys790=
ENST00000673971.1:c.*2826_*2827delinsGC	ENSP00000501192.1:n.*2826_*2827delinsGC
ENST00000262795.5:c.4224_4225delinsGC	ENSP00000489147.1:p.Lys1408=
ENST00000414786.6:n.4412_4413delinsGC
ENST00000445220.5:c.4206_4207delinsGC	ENSP00000489407.1:p.Lys1402=