Canonical Allele Identifier: CA2411008170

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721322A= , CM000684.2:g.50721322A=	GRCh38
NC_000022.10:g.51159750A= , CM000684.1:g.51159750A=	GRCh37
NC_000022.9:g.49506616A=	NCBI36
NG_008607.2:g.51968A=
NG_070230.1:g.57106A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3090A=	ENSP00000489147.2:p.Pro1030=
ENST00000414786.7:n.3674A=
ENST00000445220.7:c.2142A=	ENSP00000489407.2:p.Pro714=
ENST00000664402.2:c.1632A=	ENSP00000499475.1:p.Pro544=
ENST00000673971.2:c.*2088A=	ENSP00000501192.1:n.*2088A=
ENST00000445220.6:c.2142A=	ENSP00000489407.2:p.Pro714=
ENST00000262795.6:c.3090A=	ENSP00000489147.2:p.Pro1030=
ENST00000664402.1:c.1632A=	ENSP00000499475.1:p.Pro544=
ENST00000673971.1:c.*2088A=	ENSP00000501192.1:n.*2088A=
ENST00000262795.5:c.3486A=	ENSP00000489147.1:p.Pro1162=
ENST00000414786.6:n.3674A=
ENST00000445220.5:c.3468A=	ENSP00000489407.1:p.Pro1156=