Canonical Allele Identifier: CA645369800

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 430006
• ClinVar RCV Id: RCV000494470
• dbSNP Id: rs1131691727
• MyVariant Identifiers: chr22:g.51160490del (hg19) ; chr22:g.50722062del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722062del , CM000684.2:g.50722062del	GRCh38
NC_000022.10:g.51160490del , CM000684.1:g.51160490del	GRCh37
NC_000022.9:g.49507356del	NCBI36
NG_008607.2:g.52708del
NG_070230.1:g.57846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3830del	ENSP00000489147.2:p.Pro1277HisfsTer18
ENST00000414786.7:n.4414del
ENST00000445220.7:c.2882del	ENSP00000489407.2:p.Pro961HisfsTer18
ENST00000664402.2:c.2372del	ENSP00000499475.1:p.Pro791HisfsTer18
ENST00000673971.2:c.*2828del	ENSP00000501192.1:n.*2828del
ENST00000445220.6:c.2882del	ENSP00000489407.2:p.Pro961HisfsTer18
ENST00000262795.6:c.3830del	ENSP00000489147.2:p.Pro1277HisfsTer18
ENST00000664402.1:c.2372del	ENSP00000499475.1:p.Pro791HisfsTer18
ENST00000673971.1:c.*2828del	ENSP00000501192.1:n.*2828del
ENST00000262795.5:c.4226del	ENSP00000489147.1:p.Pro1409HisfsTer18
ENST00000414786.6:n.4414del
ENST00000445220.5:c.4208del	ENSP00000489407.1:p.Pro1403HisfsTer18