Canonical Allele Identifier: CA515260515

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720865G>A , CM000684.2:g.50720865G>A	GRCh38
NC_000022.10:g.51159293G>A , CM000684.1:g.51159293G>A	GRCh37
NC_000022.9:g.49506159G>A	NCBI36
NG_008607.2:g.51511G>A
NG_070230.1:g.56649G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.3029G>A	ENSP00000489147.1:p.Gly1010Asp
ENST00000262795.6:c.2633G>A	ENSP00000489147.2:p.Gly878Asp
ENST00000262795.7:c.2633G>A	ENSP00000489147.2:p.Gly878Asp
ENST00000414786.6:n.3217G>A
ENST00000414786.7:n.3217G>A
ENST00000445220.5:c.3011G>A	ENSP00000489407.1:p.Gly1004Asp
ENST00000445220.6:c.1685G>A	ENSP00000489407.2:p.Gly562Asp
ENST00000445220.7:c.1685G>A	ENSP00000489407.2:p.Gly562Asp
ENST00000664402.1:c.1175G>A	ENSP00000499475.1:p.Gly392Asp
ENST00000664402.2:c.1175G>A	ENSP00000499475.1:p.Gly392Asp
ENST00000673971.1:c.*1631G>A	ENSP00000501192.1:n.*1631G>A
ENST00000673971.2:c.*1631G>A	ENSP00000501192.1:n.*1631G>A