Canonical Allele Identifier: CA515265240

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722340C>T , CM000684.2:g.50722340C>T	GRCh38
NC_000022.10:g.51160768C>T , CM000684.1:g.51160768C>T	GRCh37
NC_000022.9:g.49507634C>T	NCBI36
NG_008607.2:g.52986C>T
NG_070230.1:g.58124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4504C>T	ENSP00000489147.1:p.Gln1502Ter
ENST00000262795.6:c.4108C>T	ENSP00000489147.2:p.Gln1370Ter
ENST00000262795.7:c.4108C>T	ENSP00000489147.2:p.Gln1370Ter
ENST00000414786.6:n.4692C>T
ENST00000414786.7:n.4692C>T
ENST00000445220.5:c.4486C>T	ENSP00000489407.1:p.Gln1496Ter
ENST00000445220.6:c.3160C>T	ENSP00000489407.2:p.Gln1054Ter
ENST00000445220.7:c.3160C>T	ENSP00000489407.2:p.Gln1054Ter
ENST00000664402.1:c.2650C>T	ENSP00000499475.1:p.Gln884Ter
ENST00000664402.2:c.2650C>T	ENSP00000499475.1:p.Gln884Ter
ENST00000673971.1:c.*3106C>T	ENSP00000501192.1:n.*3106C>T
ENST00000673971.2:c.*3106C>T	ENSP00000501192.1:n.*3106C>T