Canonical Allele Identifier: CA515267568

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50731100C>T , CM000684.2:g.50731100C>T	GRCh38
NC_000022.10:g.51169528C>T , CM000684.1:g.51169528C>T	GRCh37
NC_000022.9:g.49516394C>T	NCBI36
NG_008607.2:g.61746C>T
NG_070230.1:g.66884C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4981C>T	ENSP00000489147.1:p.Gln1661Ter
ENST00000262795.6:c.4612C>T	ENSP00000489147.2:p.Gln1538Ter
ENST00000262795.7:c.4612C>T	ENSP00000489147.2:p.Gln1538Ter
ENST00000414786.6:n.5196C>T
ENST00000414786.7:n.5196C>T
ENST00000445220.5:c.4963C>T	ENSP00000489407.1:p.Gln1655Ter
ENST00000445220.6:c.3664C>T	ENSP00000489407.2:p.Gln1222Ter
ENST00000445220.7:c.3664C>T	ENSP00000489407.2:p.Gln1222Ter
ENST00000659388.1:c.427C>T	ENSP00000499632.1:p.Gln143Ter
ENST00000664402.1:c.3154C>T	ENSP00000499475.1:p.Gln1052Ter
ENST00000664402.2:c.3154C>T	ENSP00000499475.1:p.Gln1052Ter
ENST00000673971.1:c.*3610C>T	ENSP00000501192.1:n.*3610C>T
ENST00000673971.2:c.*3610C>T	ENSP00000501192.1:n.*3610C>T