Canonical Allele Identifier: CA2411008176

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721332G= , CM000684.2:g.50721332G=	GRCh38
NC_000022.10:g.51159760G= , CM000684.1:g.51159760G=	GRCh37
NC_000022.9:g.49506626G=	NCBI36
NG_008607.2:g.51978G=
NG_070230.1:g.57116G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3100G=	ENSP00000489147.2:p.Ala1034=
ENST00000414786.7:n.3684G=
ENST00000445220.7:c.2152G=	ENSP00000489407.2:p.Ala718=
ENST00000664402.2:c.1642G=	ENSP00000499475.1:p.Ala548=
ENST00000673971.2:c.*2098G=	ENSP00000501192.1:n.*2098G=
ENST00000445220.6:c.2152G=	ENSP00000489407.2:p.Ala718=
ENST00000262795.6:c.3100G=	ENSP00000489147.2:p.Ala1034=
ENST00000664402.1:c.1642G=	ENSP00000499475.1:p.Ala548=
ENST00000673971.1:c.*2098G=	ENSP00000501192.1:n.*2098G=
ENST00000262795.5:c.3496G=	ENSP00000489147.1:p.Ala1166=
ENST00000414786.6:n.3684G=
ENST00000445220.5:c.3478G=	ENSP00000489407.1:p.Ala1160=