Canonical Allele Identifier: CA2411008264

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721477C= , CM000684.2:g.50721477C=	GRCh38
NC_000022.10:g.51159905C= , CM000684.1:g.51159905C=	GRCh37
NC_000022.9:g.49506771C=	NCBI36
NG_008607.2:g.52123C=
NG_070230.1:g.57261C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3245C=	ENSP00000489147.2:p.Thr1082=
ENST00000414786.7:n.3829C=
ENST00000445220.7:c.2297C=	ENSP00000489407.2:p.Thr766=
ENST00000664402.2:c.1787C=	ENSP00000499475.1:p.Thr596=
ENST00000673971.2:c.*2243C=	ENSP00000501192.1:n.*2243C=
ENST00000445220.6:c.2297C=	ENSP00000489407.2:p.Thr766=
ENST00000262795.6:c.3245C=	ENSP00000489147.2:p.Thr1082=
ENST00000664402.1:c.1787C=	ENSP00000499475.1:p.Thr596=
ENST00000673971.1:c.*2243C=	ENSP00000501192.1:n.*2243C=
ENST00000262795.5:c.3641C=	ENSP00000489147.1:p.Thr1214=
ENST00000414786.6:n.3829C=
ENST00000445220.5:c.3623C=	ENSP00000489407.1:p.Thr1208=