Canonical Allele Identifier: CA325579586

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721698C>T , CM000684.2:g.50721698C>T	GRCh38
NC_000022.10:g.51160126C>T , CM000684.1:g.51160126C>T	GRCh37
NC_000022.9:g.49506992C>T	NCBI36
NG_008607.2:g.52344C>T
NG_070230.1:g.57482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.3862C>T	ENSP00000489147.1:p.Gln1288Ter
ENST00000262795.6:c.3466C>T	ENSP00000489147.2:p.Gln1156Ter
ENST00000262795.7:c.3466C>T	ENSP00000489147.2:p.Gln1156Ter
ENST00000414786.6:n.4050C>T
ENST00000414786.7:n.4050C>T
ENST00000445220.5:c.3844C>T	ENSP00000489407.1:p.Gln1282Ter
ENST00000445220.6:c.2518C>T	ENSP00000489407.2:p.Gln840Ter
ENST00000445220.7:c.2518C>T	ENSP00000489407.2:p.Gln840Ter
ENST00000664402.1:c.2008C>T	ENSP00000499475.1:p.Gln670Ter
ENST00000664402.2:c.2008C>T	ENSP00000499475.1:p.Gln670Ter
ENST00000673971.1:c.*2464C>T	ENSP00000501192.1:n.*2464C>T
ENST00000673971.2:c.*2464C>T	ENSP00000501192.1:n.*2464C>T