Canonical Allele Identifier: CA2410995342

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697567C= , CM000684.2:g.50697567C=	GRCh38
NC_000022.10:g.51135995C= , CM000684.1:g.51135995C=	GRCh37
NC_000022.9:g.49482861C=	NCBI36
NG_008607.2:g.28213C=
NG_070230.1:g.33432C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.951C=	ENSP00000489147.2:p.Pro317=
ENST00000414786.7:n.1535C=
ENST00000445220.7:c.3C=	ENSP00000489407.2:p.Pro1=
ENST00000673971.2:c.1308C=	ENSP00000501192.1:p.Pro436=
ENST00000445220.6:c.3C=	ENSP00000489407.2:p.Pro1=
ENST00000262795.6:c.951C=	ENSP00000489147.2:p.Pro317=
ENST00000673971.1:c.1308C=	ENSP00000501192.1:p.Pro436=
ENST00000673995.1:c.4C=
ENST00000262795.5:c.1347C=	ENSP00000489147.1:p.Pro449=
ENST00000414786.6:n.1535C=
ENST00000445220.5:c.1329C=	ENSP00000489407.1:p.Pro443=