Canonical Allele Identifier: CA2411008683

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722210G= , CM000684.2:g.50722210G=	GRCh38
NC_000022.10:g.51160638G= , CM000684.1:g.51160638G=	GRCh37
NC_000022.9:g.49507504G=	NCBI36
NG_008607.2:g.52856G=
NG_070230.1:g.57994G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3978G=	ENSP00000489147.2:p.Gly1326=
ENST00000414786.7:n.4562G=
ENST00000445220.7:c.3030G=	ENSP00000489407.2:p.Gly1010=
ENST00000664402.2:c.2520G=	ENSP00000499475.1:p.Gly840=
ENST00000673971.2:c.*2976G=	ENSP00000501192.1:n.*2976G=
ENST00000445220.6:c.3030G=	ENSP00000489407.2:p.Gly1010=
ENST00000262795.6:c.3978G=	ENSP00000489147.2:p.Gly1326=
ENST00000664402.1:c.2520G=	ENSP00000499475.1:p.Gly840=
ENST00000673971.1:c.*2976G=	ENSP00000501192.1:n.*2976G=
ENST00000262795.5:c.4374G=	ENSP00000489147.1:p.Gly1458=
ENST00000414786.6:n.4562G=
ENST00000445220.5:c.4356G=	ENSP00000489407.1:p.Gly1452=