Canonical Allele Identifier: CA515266732

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730878G>T , CM000684.2:g.50730878G>T	GRCh38
NC_000022.10:g.51169306G>T , CM000684.1:g.51169306G>T	GRCh37
NC_000022.9:g.49516172G>T	NCBI36
NG_008607.2:g.61524G>T
NG_070230.1:g.66662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4759G>T	ENSP00000489147.1:p.Glu1587Ter
ENST00000262795.6:c.4390G>T	ENSP00000489147.2:p.Glu1464Ter
ENST00000262795.7:c.4390G>T	ENSP00000489147.2:p.Glu1464Ter
ENST00000414786.6:n.4974G>T
ENST00000414786.7:n.4974G>T
ENST00000445220.5:c.4741G>T	ENSP00000489407.1:p.Glu1581Ter
ENST00000445220.6:c.3442G>T	ENSP00000489407.2:p.Glu1148Ter
ENST00000445220.7:c.3442G>T	ENSP00000489407.2:p.Glu1148Ter
ENST00000659388.1:c.205G>T	ENSP00000499632.1:p.Glu69Ter
ENST00000664402.1:c.2932G>T	ENSP00000499475.1:p.Glu978Ter
ENST00000664402.2:c.2932G>T	ENSP00000499475.1:p.Glu978Ter
ENST00000673971.1:c.*3388G>T	ENSP00000501192.1:n.*3388G>T
ENST00000673971.2:c.*3388G>T	ENSP00000501192.1:n.*3388G>T