Canonical Allele Identifier: CA1139667203

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720921del , CM000684.2:g.50720921del	GRCh38
NC_000022.10:g.51159349del , CM000684.1:g.51159349del	GRCh37
NC_000022.9:g.49506215del	NCBI36
NG_008607.2:g.51567del
NG_070230.1:g.56705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.5:c.3085del	ENSP00000489147.1:p.Leu1029CysfsTer?
ENST00000262795.6:c.2689del	ENSP00000489147.2:p.Leu897CysfsTer?
ENST00000262795.7:c.2689del	ENSP00000489147.2:p.Leu897CysfsTer?
ENST00000414786.6:n.3273del
ENST00000414786.7:n.3273del
ENST00000445220.5:c.3067del	ENSP00000489407.1:p.Leu1023CysfsTer?
ENST00000445220.6:c.1741del	ENSP00000489407.2:p.Leu581CysfsTer?
ENST00000445220.7:c.1741del	ENSP00000489407.2:p.Leu581CysfsTer?
ENST00000664402.1:c.1231del	ENSP00000499475.1:p.Leu411CysfsTer?
ENST00000664402.2:c.1231del	ENSP00000499475.1:p.Leu411CysfsTer?
ENST00000673971.1:c.*1687del	ENSP00000501192.1:n.*1687del
ENST00000673971.2:c.*1687del	ENSP00000501192.1:n.*1687del