Canonical Allele Identifier: CA2411008311

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721537C= , CM000684.2:g.50721537C=	GRCh38
NC_000022.10:g.51159965C= , CM000684.1:g.51159965C=	GRCh37
NC_000022.9:g.49506831C=	NCBI36
NG_008607.2:g.52183C=
NG_070230.1:g.57321C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3305C=	ENSP00000489147.2:p.Pro1102=
ENST00000414786.7:n.3889C=
ENST00000445220.7:c.2357C=	ENSP00000489407.2:p.Pro786=
ENST00000664402.2:c.1847C=	ENSP00000499475.1:p.Pro616=
ENST00000673971.2:c.*2303C=	ENSP00000501192.1:n.*2303C=
ENST00000445220.6:c.2357C=	ENSP00000489407.2:p.Pro786=
ENST00000262795.6:c.3305C=	ENSP00000489147.2:p.Pro1102=
ENST00000664402.1:c.1847C=	ENSP00000499475.1:p.Pro616=
ENST00000673971.1:c.*2303C=	ENSP00000501192.1:n.*2303C=
ENST00000262795.5:c.3701C=	ENSP00000489147.1:p.Pro1234=
ENST00000414786.6:n.3889C=
ENST00000445220.5:c.3683C=	ENSP00000489407.1:p.Pro1228=