Canonical Allele Identifier: CA2411003189

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50712045G= , CM000684.2:g.50712045G=	GRCh38
NC_000022.10:g.51150473G= , CM000684.1:g.51150473G=	GRCh37
NC_000022.9:g.49497339G=	NCBI36
NG_008607.2:g.42691G=
NG_070230.1:g.47911G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.2131+407G=	ENSP00000489147.1:n.2131+407G=
ENST00000262795.6:c.1735+407G=	ENSP00000489147.2:n.1735+407G=
ENST00000262795.7:c.1735+407G=	ENSP00000489147.2:n.1735+407G=
ENST00000414786.6:n.2319+407G=
ENST00000414786.7:n.2319+407G=
ENST00000445220.5:c.2113+407G=	ENSP00000489407.1:n.2113+407G=
ENST00000445220.6:c.787+407G=	ENSP00000489407.2:n.787+407G=
ENST00000445220.7:c.787+407G=	ENSP00000489407.2:n.787+407G=
ENST00000664402.1:c.277+407G=	ENSP00000499475.1:n.277+407G=
ENST00000664402.2:c.277+407G=	ENSP00000499475.1:n.277+407G=
ENST00000673971.1:c.*733+407G=	ENSP00000501192.1:n.*733+407G=
ENST00000673971.2:c.*733+407G=	ENSP00000501192.1:n.*733+407G=