Canonical Allele Identifier: CA515266705

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730869G>T , CM000684.2:g.50730869G>T	GRCh38
NC_000022.10:g.51169297G>T , CM000684.1:g.51169297G>T	GRCh37
NC_000022.9:g.49516163G>T	NCBI36
NG_008607.2:g.61515G>T
NG_070230.1:g.66653G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4750G>T	ENSP00000489147.1:p.Glu1584Ter
ENST00000262795.6:c.4381G>T	ENSP00000489147.2:p.Glu1461Ter
ENST00000262795.7:c.4381G>T	ENSP00000489147.2:p.Glu1461Ter
ENST00000414786.6:n.4965G>T
ENST00000414786.7:n.4965G>T
ENST00000445220.5:c.4732G>T	ENSP00000489407.1:p.Glu1578Ter
ENST00000445220.6:c.3433G>T	ENSP00000489407.2:p.Glu1145Ter
ENST00000445220.7:c.3433G>T	ENSP00000489407.2:p.Glu1145Ter
ENST00000659388.1:c.196G>T	ENSP00000499632.1:p.Glu66Ter
ENST00000664402.1:c.2923G>T	ENSP00000499475.1:p.Glu975Ter
ENST00000664402.2:c.2923G>T	ENSP00000499475.1:p.Glu975Ter
ENST00000673971.1:c.*3379G>T	ENSP00000501192.1:n.*3379G>T
ENST00000673971.2:c.*3379G>T	ENSP00000501192.1:n.*3379G>T