Canonical Allele Identifier: CA915952297

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50675253T>G , CM000684.2:g.50675253T>G	GRCh38
NC_000022.10:g.51113681T>G , CM000684.1:g.51113681T>G	GRCh37
NC_000022.9:g.49460547T>G	NCBI36
NG_008607.2:g.5612T>G
NG_070230.1:g.11010T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001372044.2:c.492+2T>G MANE Select	NP_001358973.1:n.492+2T>G
NM_001372044.1:c.492+2T>G	NP_001358973.1:n.492+2T>G
NM_033517.1:c.267+2T>G	NP_277052.1:n.267+2T>G
ENST00000262795.5:c.267+2T>G	ENSP00000489147.1:n.267+2T>G
ENST00000262795.6:c.-91+2T>G	ENSP00000489147.2:n.-91+2T>G
ENST00000262795.7:c.-91+2T>G	ENSP00000489147.2:n.-91+2T>G
ENST00000414786.6:n.494+2T>G
ENST00000414786.7:n.494+2T>G
ENST00000445220.5:c.267+2T>G	ENSP00000489407.1:n.267+2T>G
ENST00000673971.1:c.267+2T>G	ENSP00000501192.1:n.267+2T>G
ENST00000673971.2:c.267+2T>G	ENSP00000501192.1:n.267+2T>G
ENST00000691768.1:n.230+2T>G
ENST00000692848.1:c.267+2T>G	ENSP00000510794.1:n.267+2T>G