Canonical Allele Identifier: CA515266505

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730801C>A , CM000684.2:g.50730801C>A	GRCh38
NC_000022.10:g.51169229C>A , CM000684.1:g.51169229C>A	GRCh37
NC_000022.9:g.49516095C>A	NCBI36
NG_008607.2:g.61447C>A
NG_070230.1:g.66585C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4682C>A	ENSP00000489147.1:p.Ser1561Ter
ENST00000262795.6:c.4313C>A	ENSP00000489147.2:p.Ser1438Ter
ENST00000262795.7:c.4313C>A	ENSP00000489147.2:p.Ser1438Ter
ENST00000414786.6:n.4897C>A
ENST00000414786.7:n.4897C>A
ENST00000445220.5:c.4664C>A	ENSP00000489407.1:p.Ser1555Ter
ENST00000445220.6:c.3365C>A	ENSP00000489407.2:p.Ser1122Ter
ENST00000445220.7:c.3365C>A	ENSP00000489407.2:p.Ser1122Ter
ENST00000659388.1:c.128C>A	ENSP00000499632.1:p.Ser43Ter
ENST00000664402.1:c.2855C>A	ENSP00000499475.1:p.Ser952Ter
ENST00000664402.2:c.2855C>A	ENSP00000499475.1:p.Ser952Ter
ENST00000673971.1:c.*3311C>A	ENSP00000501192.1:n.*3311C>A
ENST00000673971.2:c.*3311C>A	ENSP00000501192.1:n.*3311C>A