Canonical Allele Identifier: CA2580099968

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720859del , CM000684.2:g.50720859del	GRCh38
NC_000022.10:g.51159287del , CM000684.1:g.51159287del	GRCh37
NC_000022.9:g.49506153del	NCBI36
NG_008607.2:g.51505del
NG_070230.1:g.56643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.3023del	ENSP00000489147.1:p.Phe1008SerfsTer?
ENST00000262795.6:c.2627del	ENSP00000489147.2:p.Phe876SerfsTer?
ENST00000262795.7:c.2627del	ENSP00000489147.2:p.Phe876SerfsTer?
ENST00000414786.6:n.3211del
ENST00000414786.7:n.3211del
ENST00000445220.5:c.3005del	ENSP00000489407.1:p.Phe1002SerfsTer?
ENST00000445220.6:c.1679del	ENSP00000489407.2:p.Phe560SerfsTer?
ENST00000445220.7:c.1679del	ENSP00000489407.2:p.Phe560SerfsTer?
ENST00000664402.1:c.1169del	ENSP00000499475.1:p.Phe390SerfsTer?
ENST00000664402.2:c.1169del	ENSP00000499475.1:p.Phe390SerfsTer?
ENST00000673971.1:c.*1625del	ENSP00000501192.1:n.*1625del
ENST00000673971.2:c.*1625del	ENSP00000501192.1:n.*1625del