Canonical Allele Identifier: CA2411007969

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721010G= , CM000684.2:g.50721010G=	GRCh38
NC_000022.10:g.51159438G= , CM000684.1:g.51159438G=	GRCh37
NC_000022.9:g.49506304G=	NCBI36
NG_008607.2:g.51656G=
NG_070230.1:g.56794G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2778G=	ENSP00000489147.2:p.Gly926=
ENST00000414786.7:n.3362G=
ENST00000445220.7:c.1830G=	ENSP00000489407.2:p.Gly610=
ENST00000664402.2:c.1320G=	ENSP00000499475.1:p.Gly440=
ENST00000673971.2:c.*1776G=	ENSP00000501192.1:n.*1776G=
ENST00000445220.6:c.1830G=	ENSP00000489407.2:p.Gly610=
ENST00000262795.6:c.2778G=	ENSP00000489147.2:p.Gly926=
ENST00000664402.1:c.1320G=	ENSP00000499475.1:p.Gly440=
ENST00000673971.1:c.*1776G=	ENSP00000501192.1:n.*1776G=
ENST00000262795.5:c.3174G=	ENSP00000489147.1:p.Gly1058=
ENST00000414786.6:n.3362G=
ENST00000445220.5:c.3156G=	ENSP00000489407.1:p.Gly1052=