Canonical Allele Identifier: CA2411008162

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721311G= , CM000684.2:g.50721311G=	GRCh38
NC_000022.10:g.51159739G= , CM000684.1:g.51159739G=	GRCh37
NC_000022.9:g.49506605G=	NCBI36
NG_008607.2:g.51957G=
NG_070230.1:g.57095G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3079G=	ENSP00000489147.2:p.Ala1027=
ENST00000414786.7:n.3663G=
ENST00000445220.7:c.2131G=	ENSP00000489407.2:p.Ala711=
ENST00000664402.2:c.1621G=	ENSP00000499475.1:p.Ala541=
ENST00000673971.2:c.*2077G=	ENSP00000501192.1:n.*2077G=
ENST00000445220.6:c.2131G=	ENSP00000489407.2:p.Ala711=
ENST00000262795.6:c.3079G=	ENSP00000489147.2:p.Ala1027=
ENST00000664402.1:c.1621G=	ENSP00000499475.1:p.Ala541=
ENST00000673971.1:c.*2077G=	ENSP00000501192.1:n.*2077G=
ENST00000262795.5:c.3475G=	ENSP00000489147.1:p.Ala1159=
ENST00000414786.6:n.3663G=
ENST00000445220.5:c.3457G=	ENSP00000489407.1:p.Ala1153=