Canonical Allele Identifier: CA2411008027

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721093G= , CM000684.2:g.50721093G=	GRCh38
NC_000022.10:g.51159521G= , CM000684.1:g.51159521G=	GRCh37
NC_000022.9:g.49506387G=	NCBI36
NG_008607.2:g.51739G=
NG_070230.1:g.56877G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2861G=	ENSP00000489147.2:p.Gly954=
ENST00000414786.7:n.3445G=
ENST00000445220.7:c.1913G=	ENSP00000489407.2:p.Gly638=
ENST00000664402.2:c.1403G=	ENSP00000499475.1:p.Gly468=
ENST00000673971.2:c.*1859G=	ENSP00000501192.1:n.*1859G=
ENST00000445220.6:c.1913G=	ENSP00000489407.2:p.Gly638=
ENST00000262795.6:c.2861G=	ENSP00000489147.2:p.Gly954=
ENST00000664402.1:c.1403G=	ENSP00000499475.1:p.Gly468=
ENST00000673971.1:c.*1859G=	ENSP00000501192.1:n.*1859G=
ENST00000262795.5:c.3257G=	ENSP00000489147.1:p.Gly1086=
ENST00000414786.6:n.3445G=
ENST00000445220.5:c.3239G=	ENSP00000489407.1:p.Gly1080=