Canonical Allele Identifier: CA2411007803

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083277879

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720758del , CM000684.2:g.50720758del	GRCh38
NC_000022.10:g.51159186del , CM000684.1:g.51159186del	GRCh37
NC_000022.9:g.49506052del	NCBI36
NG_008607.2:g.51404del
NG_070230.1:g.56542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2526del	ENSP00000489147.2:p.Gly844AlafsTer?
ENST00000414786.7:n.3110del
ENST00000445220.7:c.1578del	ENSP00000489407.2:p.Gly528AlafsTer?
ENST00000664402.2:c.1068del	ENSP00000499475.1:p.Gly358AlafsTer?
ENST00000673971.2:c.*1524del	ENSP00000501192.1:n.*1524del
ENST00000445220.6:c.1578del	ENSP00000489407.2:p.Gly528AlafsTer?
ENST00000262795.6:c.2526del	ENSP00000489147.2:p.Gly844AlafsTer?
ENST00000664402.1:c.1068del	ENSP00000499475.1:p.Gly358AlafsTer?
ENST00000673971.1:c.*1524del	ENSP00000501192.1:n.*1524del
ENST00000262795.5:c.2922del	ENSP00000489147.1:p.Gly976AlafsTer?
ENST00000414786.6:n.3110del
ENST00000445220.5:c.2904del	ENSP00000489407.1:p.Gly970AlafsTer?