Canonical Allele Identifier: CA2580099981

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1802605
• ClinVar RCV Id: RCV002465444

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721110_50721143del , CM000684.2:g.50721110_50721143del	GRCh38
NC_000022.10:g.51159538_51159571del , CM000684.1:g.51159538_51159571del	GRCh37
NC_000022.9:g.49506404_49506437del	NCBI36
NG_008607.2:g.51756_51789del
NG_070230.1:g.56894_56927del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2878_2911del	ENSP00000489147.2:p.Phe960ProfsTer?
ENST00000414786.7:n.3462_3495del
ENST00000445220.7:c.1930_1963del	ENSP00000489407.2:p.Phe644ProfsTer?
ENST00000664402.2:c.1420_1453del	ENSP00000499475.1:p.Phe474ProfsTer?
ENST00000673971.2:c.*1876_*1909del	ENSP00000501192.1:n.*1876_*1909del
ENST00000445220.6:c.1930_1963del	ENSP00000489407.2:p.Phe644ProfsTer?
ENST00000262795.6:c.2878_2911del	ENSP00000489147.2:p.Phe960ProfsTer?
ENST00000664402.1:c.1420_1453del	ENSP00000499475.1:p.Phe474ProfsTer?
ENST00000673971.1:c.*1876_*1909del	ENSP00000501192.1:n.*1876_*1909del
ENST00000262795.5:c.3274_3307del	ENSP00000489147.1:p.Phe1092ProfsTer?
ENST00000414786.6:n.3462_3495del
ENST00000445220.5:c.3256_3289del	ENSP00000489407.1:p.Phe1086ProfsTer?