Canonical Allele Identifier: CA2411008465

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721799A= , CM000684.2:g.50721799A=	GRCh38
NC_000022.10:g.51160227A= , CM000684.1:g.51160227A=	GRCh37
NC_000022.9:g.49507093A=	NCBI36
NG_008607.2:g.52445A=
NG_070230.1:g.57583A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3567A=	ENSP00000489147.2:p.Pro1189=
ENST00000414786.7:n.4151A=
ENST00000445220.7:c.2619A=	ENSP00000489407.2:p.Pro873=
ENST00000664402.2:c.2109A=	ENSP00000499475.1:p.Pro703=
ENST00000673971.2:c.*2565A=	ENSP00000501192.1:n.*2565A=
ENST00000445220.6:c.2619A=	ENSP00000489407.2:p.Pro873=
ENST00000262795.6:c.3567A=	ENSP00000489147.2:p.Pro1189=
ENST00000664402.1:c.2109A=	ENSP00000499475.1:p.Pro703=
ENST00000673971.1:c.*2565A=	ENSP00000501192.1:n.*2565A=
ENST00000262795.5:c.3963A=	ENSP00000489147.1:p.Pro1321=
ENST00000414786.6:n.4151A=
ENST00000445220.5:c.3945A=	ENSP00000489407.1:p.Pro1315=