Canonical Allele Identifier: CA2411008469

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721805T= , CM000684.2:g.50721805T=	GRCh38
NC_000022.10:g.51160233T= , CM000684.1:g.51160233T=	GRCh37
NC_000022.9:g.49507099T=	NCBI36
NG_008607.2:g.52451T=
NG_070230.1:g.57589T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3573T=	ENSP00000489147.2:p.Ala1191=
ENST00000414786.7:n.4157T=
ENST00000445220.7:c.2625T=	ENSP00000489407.2:p.Ala875=
ENST00000664402.2:c.2115T=	ENSP00000499475.1:p.Ala705=
ENST00000673971.2:c.*2571T=	ENSP00000501192.1:n.*2571T=
ENST00000445220.6:c.2625T=	ENSP00000489407.2:p.Ala875=
ENST00000262795.6:c.3573T=	ENSP00000489147.2:p.Ala1191=
ENST00000664402.1:c.2115T=	ENSP00000499475.1:p.Ala705=
ENST00000673971.1:c.*2571T=	ENSP00000501192.1:n.*2571T=
ENST00000262795.5:c.3969T=	ENSP00000489147.1:p.Ala1323=
ENST00000414786.6:n.4157T=
ENST00000445220.5:c.3951T=	ENSP00000489407.1:p.Ala1317=