Canonical Allele Identifier: CA2410995366

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697594G= , CM000684.2:g.50697594G=	GRCh38
NC_000022.10:g.51136022G= , CM000684.1:g.51136022G=	GRCh37
NC_000022.9:g.49482888G=	NCBI36
NG_008607.2:g.28240G=
NG_070230.1:g.33459G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.978G=	ENSP00000489147.2:p.Pro326=
ENST00000414786.7:n.1562G=
ENST00000445220.7:c.30G=	ENSP00000489407.2:p.Pro10=
ENST00000673971.2:c.1335G=	ENSP00000501192.1:p.Pro445=
ENST00000445220.6:c.30G=	ENSP00000489407.2:p.Pro10=
ENST00000262795.6:c.978G=	ENSP00000489147.2:p.Pro326=
ENST00000673971.1:c.1335G=	ENSP00000501192.1:p.Pro445=
ENST00000673995.1:c.31G=
ENST00000262795.5:c.1374G=	ENSP00000489147.1:p.Pro458=
ENST00000414786.6:n.1562G=
ENST00000445220.5:c.1356G=	ENSP00000489407.1:p.Pro452=