Canonical Allele Identifier: CA2411008224

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721413A= , CM000684.2:g.50721413A=	GRCh38
NC_000022.10:g.51159841A= , CM000684.1:g.51159841A=	GRCh37
NC_000022.9:g.49506707A=	NCBI36
NG_008607.2:g.52059A=
NG_070230.1:g.57197A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3181A=	ENSP00000489147.2:p.Met1061=
ENST00000414786.7:n.3765A=
ENST00000445220.7:c.2233A=	ENSP00000489407.2:p.Met745=
ENST00000664402.2:c.1723A=	ENSP00000499475.1:p.Met575=
ENST00000673971.2:c.*2179A=	ENSP00000501192.1:n.*2179A=
ENST00000445220.6:c.2233A=	ENSP00000489407.2:p.Met745=
ENST00000262795.6:c.3181A=	ENSP00000489147.2:p.Met1061=
ENST00000664402.1:c.1723A=	ENSP00000499475.1:p.Met575=
ENST00000673971.1:c.*2179A=	ENSP00000501192.1:n.*2179A=
ENST00000262795.5:c.3577A=	ENSP00000489147.1:p.Met1193=
ENST00000414786.6:n.3765A=
ENST00000445220.5:c.3559A=	ENSP00000489407.1:p.Met1187=