Canonical Allele Identifier: CA515259386

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720479T>A , CM000684.2:g.50720479T>A	GRCh38
NC_000022.10:g.51158907T>A , CM000684.1:g.51158907T>A	GRCh37
NC_000022.9:g.49505773T>A	NCBI36
NG_008607.2:g.51125T>A
NG_070230.1:g.56263T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.2643T>A	ENSP00000489147.1:p.Tyr881Ter
ENST00000262795.6:c.2247T>A	ENSP00000489147.2:p.Tyr749Ter
ENST00000262795.7:c.2247T>A	ENSP00000489147.2:p.Tyr749Ter
ENST00000414786.6:n.2831T>A
ENST00000414786.7:n.2831T>A
ENST00000445220.5:c.2625T>A	ENSP00000489407.1:p.Tyr875Ter
ENST00000445220.6:c.1299T>A	ENSP00000489407.2:p.Tyr433Ter
ENST00000445220.7:c.1299T>A	ENSP00000489407.2:p.Tyr433Ter
ENST00000664402.1:c.789T>A	ENSP00000499475.1:p.Tyr263Ter
ENST00000664402.2:c.789T>A	ENSP00000499475.1:p.Tyr263Ter
ENST00000673971.1:c.*1245T>A	ENSP00000501192.1:n.*1245T>A
ENST00000673971.2:c.*1245T>A	ENSP00000501192.1:n.*1245T>A