Canonical Allele Identifier: CA515266501

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730799C>G , CM000684.2:g.50730799C>G	GRCh38
NC_000022.10:g.51169227C>G , CM000684.1:g.51169227C>G	GRCh37
NC_000022.9:g.49516093C>G	NCBI36
NG_008607.2:g.61445C>G
NG_070230.1:g.66583C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.4680C>G	ENSP00000489147.1:p.Tyr1560Ter
ENST00000262795.6:c.4311C>G	ENSP00000489147.2:p.Tyr1437Ter
ENST00000262795.7:c.4311C>G	ENSP00000489147.2:p.Tyr1437Ter
ENST00000414786.6:n.4895C>G
ENST00000414786.7:n.4895C>G
ENST00000445220.5:c.4662C>G	ENSP00000489407.1:p.Tyr1554Ter
ENST00000445220.6:c.3363C>G	ENSP00000489407.2:p.Tyr1121Ter
ENST00000445220.7:c.3363C>G	ENSP00000489407.2:p.Tyr1121Ter
ENST00000659388.1:c.126C>G	ENSP00000499632.1:p.Tyr42Ter
ENST00000664402.1:c.2853C>G	ENSP00000499475.1:p.Tyr951Ter
ENST00000664402.2:c.2853C>G	ENSP00000499475.1:p.Tyr951Ter
ENST00000673971.1:c.*3309C>G	ENSP00000501192.1:n.*3309C>G
ENST00000673971.2:c.*3309C>G	ENSP00000501192.1:n.*3309C>G