Canonical Allele Identifier: CA515264167

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722004G>T , CM000684.2:g.50722004G>T	GRCh38
NC_000022.10:g.51160432G>T , CM000684.1:g.51160432G>T	GRCh37
NC_000022.9:g.49507298G>T	NCBI36
NG_008607.2:g.52650G>T
NG_070230.1:g.57788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4168G>T	ENSP00000489147.1:p.Glu1390Ter
ENST00000262795.6:c.3772G>T	ENSP00000489147.2:p.Glu1258Ter
ENST00000262795.7:c.3772G>T	ENSP00000489147.2:p.Glu1258Ter
ENST00000414786.6:n.4356G>T
ENST00000414786.7:n.4356G>T
ENST00000445220.5:c.4150G>T	ENSP00000489407.1:p.Glu1384Ter
ENST00000445220.6:c.2824G>T	ENSP00000489407.2:p.Glu942Ter
ENST00000445220.7:c.2824G>T	ENSP00000489407.2:p.Glu942Ter
ENST00000664402.1:c.2314G>T	ENSP00000499475.1:p.Glu772Ter
ENST00000664402.2:c.2314G>T	ENSP00000499475.1:p.Glu772Ter
ENST00000673971.1:c.*2770G>T	ENSP00000501192.1:n.*2770G>T
ENST00000673971.2:c.*2770G>T	ENSP00000501192.1:n.*2770G>T