Canonical Allele Identifier: CA640057574

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50715048G>A , CM000684.2:g.50715048G>A	GRCh38
NC_000022.10:g.51153476G>A , CM000684.1:g.51153476G>A	GRCh37
NC_000022.9:g.49500342G>A	NCBI36
NG_008607.2:g.45694G>A
NG_070230.1:g.50914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.2262+1G>A	ENSP00000489147.1:n.2262+1G>A
ENST00000262795.6:c.1866+1G>A	ENSP00000489147.2:n.1866+1G>A
ENST00000262795.7:c.1866+1G>A	ENSP00000489147.2:n.1866+1G>A
ENST00000414786.6:n.2450+1G>A
ENST00000414786.7:n.2450+1G>A
ENST00000445220.5:c.2244+1G>A	ENSP00000489407.1:n.2244+1G>A
ENST00000445220.6:c.918+1G>A	ENSP00000489407.2:n.918+1G>A
ENST00000445220.7:c.918+1G>A	ENSP00000489407.2:n.918+1G>A
ENST00000664402.1:c.408+1G>A	ENSP00000499475.1:n.408+1G>A
ENST00000664402.2:c.408+1G>A	ENSP00000499475.1:n.408+1G>A
ENST00000673971.1:c.*864+1G>A	ENSP00000501192.1:n.*864+1G>A
ENST00000673971.2:c.*864+1G>A	ENSP00000501192.1:n.*864+1G>A