Canonical Allele Identifier: CA2411008653

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722162G= , CM000684.2:g.50722162G=	GRCh38
NC_000022.10:g.51160590G= , CM000684.1:g.51160590G=	GRCh37
NC_000022.9:g.49507456G=	NCBI36
NG_008607.2:g.52808G=
NG_070230.1:g.57946G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3930G=	ENSP00000489147.2:p.Met1310=
ENST00000414786.7:n.4514G=
ENST00000445220.7:c.2982G=	ENSP00000489407.2:p.Met994=
ENST00000664402.2:c.2472G=	ENSP00000499475.1:p.Met824=
ENST00000673971.2:c.*2928G=	ENSP00000501192.1:n.*2928G=
ENST00000445220.6:c.2982G=	ENSP00000489407.2:p.Met994=
ENST00000262795.6:c.3930G=	ENSP00000489147.2:p.Met1310=
ENST00000664402.1:c.2472G=	ENSP00000499475.1:p.Met824=
ENST00000673971.1:c.*2928G=	ENSP00000501192.1:n.*2928G=
ENST00000262795.5:c.4326G=	ENSP00000489147.1:p.Met1442=
ENST00000414786.6:n.4514G=
ENST00000445220.5:c.4308G=	ENSP00000489407.1:p.Met1436=