Canonical Allele Identifier: CA2411008019

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721083C= , CM000684.2:g.50721083C=	GRCh38
NC_000022.10:g.51159511C= , CM000684.1:g.51159511C=	GRCh37
NC_000022.9:g.49506377C=	NCBI36
NG_008607.2:g.51729C=
NG_070230.1:g.56867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2851C=	ENSP00000489147.2:p.Pro951=
ENST00000414786.7:n.3435C=
ENST00000445220.7:c.1903C=	ENSP00000489407.2:p.Pro635=
ENST00000664402.2:c.1393C=	ENSP00000499475.1:p.Pro465=
ENST00000673971.2:c.*1849C=	ENSP00000501192.1:n.*1849C=
ENST00000445220.6:c.1903C=	ENSP00000489407.2:p.Pro635=
ENST00000262795.6:c.2851C=	ENSP00000489147.2:p.Pro951=
ENST00000664402.1:c.1393C=	ENSP00000499475.1:p.Pro465=
ENST00000673971.1:c.*1849C=	ENSP00000501192.1:n.*1849C=
ENST00000262795.5:c.3247C=	ENSP00000489147.1:p.Pro1083=
ENST00000414786.6:n.3435C=
ENST00000445220.5:c.3229C=	ENSP00000489407.1:p.Pro1077=