Canonical Allele Identifier: CA2411008179

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721338A= , CM000684.2:g.50721338A=	GRCh38
NC_000022.10:g.51159766A= , CM000684.1:g.51159766A=	GRCh37
NC_000022.9:g.49506632A=	NCBI36
NG_008607.2:g.51984A=
NG_070230.1:g.57122A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3106A=	ENSP00000489147.2:p.Ile1036=
ENST00000414786.7:n.3690A=
ENST00000445220.7:c.2158A=	ENSP00000489407.2:p.Ile720=
ENST00000664402.2:c.1648A=	ENSP00000499475.1:p.Ile550=
ENST00000673971.2:c.*2104A=	ENSP00000501192.1:n.*2104A=
ENST00000445220.6:c.2158A=	ENSP00000489407.2:p.Ile720=
ENST00000262795.6:c.3106A=	ENSP00000489147.2:p.Ile1036=
ENST00000664402.1:c.1648A=	ENSP00000499475.1:p.Ile550=
ENST00000673971.1:c.*2104A=	ENSP00000501192.1:n.*2104A=
ENST00000262795.5:c.3502A=	ENSP00000489147.1:p.Ile1168=
ENST00000414786.6:n.3690A=
ENST00000445220.5:c.3484A=	ENSP00000489407.1:p.Ile1162=