Canonical Allele Identifier: CA2657581379

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721898-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721902del , CM000684.2:g.50721902del	GRCh38
NC_000022.10:g.51160330del , CM000684.1:g.51160330del	GRCh37
NC_000022.9:g.49507196del	NCBI36
NG_008607.2:g.52548del
NG_070230.1:g.57686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3670del	ENSP00000489147.2:p.Val1224TrpfsTer29
ENST00000414786.7:n.4254del
ENST00000445220.7:c.2722del	ENSP00000489407.2:p.Val908TrpfsTer29
ENST00000664402.2:c.2212del	ENSP00000499475.1:p.Val738TrpfsTer29
ENST00000673971.2:c.*2668del	ENSP00000501192.1:n.*2668del
ENST00000445220.6:c.2722del	ENSP00000489407.2:p.Val908TrpfsTer29
ENST00000262795.6:c.3670del	ENSP00000489147.2:p.Val1224TrpfsTer29
ENST00000664402.1:c.2212del	ENSP00000499475.1:p.Val738TrpfsTer29
ENST00000673971.1:c.*2668del	ENSP00000501192.1:n.*2668del
ENST00000262795.5:c.4066del	ENSP00000489147.1:p.Val1356TrpfsTer29
ENST00000414786.6:n.4254del
ENST00000445220.5:c.4048del	ENSP00000489407.1:p.Val1350TrpfsTer29