Canonical Allele Identifier: CA1139667209

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 978892
• ClinVar RCV Id: RCV001257671
• dbSNP Id: rs2083292400

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721801del , CM000684.2:g.50721801del	GRCh38
NC_000022.10:g.51160229del , CM000684.1:g.51160229del	GRCh37
NC_000022.9:g.49507095del	NCBI36
NG_008607.2:g.52447del
NG_070230.1:g.57585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3569del	ENSP00000489147.2:p.Leu1190ProfsTer?
ENST00000414786.7:n.4153del
ENST00000445220.7:c.2621del	ENSP00000489407.2:p.Leu874ProfsTer?
ENST00000664402.2:c.2111del	ENSP00000499475.1:p.Leu704ProfsTer?
ENST00000673971.2:c.*2567del	ENSP00000501192.1:n.*2567del
ENST00000445220.6:c.2621del	ENSP00000489407.2:p.Leu874ProfsTer?
ENST00000262795.6:c.3569del	ENSP00000489147.2:p.Leu1190ProfsTer?
ENST00000664402.1:c.2111del	ENSP00000499475.1:p.Leu704ProfsTer?
ENST00000673971.1:c.*2567del	ENSP00000501192.1:n.*2567del
ENST00000262795.5:c.3965del	ENSP00000489147.1:p.Leu1322ProfsTer?
ENST00000414786.6:n.4153del
ENST00000445220.5:c.3947del	ENSP00000489407.1:p.Leu1316ProfsTer?