Canonical Allele Identifier: CA2411008039

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721114T= , CM000684.2:g.50721114T=	GRCh38
NC_000022.10:g.51159542T= , CM000684.1:g.51159542T=	GRCh37
NC_000022.9:g.49506408T=	NCBI36
NG_008607.2:g.51760T=
NG_070230.1:g.56898T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2882T=	ENSP00000489147.2:p.Ile961=
ENST00000414786.7:n.3466T=
ENST00000445220.7:c.1934T=	ENSP00000489407.2:p.Ile645=
ENST00000664402.2:c.1424T=	ENSP00000499475.1:p.Ile475=
ENST00000673971.2:c.*1880T=	ENSP00000501192.1:n.*1880T=
ENST00000445220.6:c.1934T=	ENSP00000489407.2:p.Ile645=
ENST00000262795.6:c.2882T=	ENSP00000489147.2:p.Ile961=
ENST00000664402.1:c.1424T=	ENSP00000499475.1:p.Ile475=
ENST00000673971.1:c.*1880T=	ENSP00000501192.1:n.*1880T=
ENST00000262795.5:c.3278T=	ENSP00000489147.1:p.Ile1093=
ENST00000414786.6:n.3466T=
ENST00000445220.5:c.3260T=	ENSP00000489407.1:p.Ile1087=