Canonical Allele Identifier: CA658799570

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 521238
• ClinVar RCV Id: RCV000622942
• dbSNP Id: rs1555910140

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721212delinsCC , CM000684.2:g.50721212delinsCC	GRCh38
NC_000022.10:g.51159640delinsCC , CM000684.1:g.51159640delinsCC	GRCh37
NC_000022.9:g.49506506delinsCC	NCBI36
NG_008607.2:g.51858delinsCC
NG_070230.1:g.56996delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2980delinsCC	ENSP00000489147.2:p.Ser994ProfsTer?
ENST00000414786.7:n.3564delinsCC
ENST00000445220.7:c.2032delinsCC	ENSP00000489407.2:p.Ser678ProfsTer?
ENST00000664402.2:c.1522delinsCC	ENSP00000499475.1:p.Ser508ProfsTer?
ENST00000673971.2:c.*1978delinsCC	ENSP00000501192.1:n.*1978delinsCC
ENST00000445220.6:c.2032delinsCC	ENSP00000489407.2:p.Ser678ProfsTer?
ENST00000262795.6:c.2980delinsCC	ENSP00000489147.2:p.Ser994ProfsTer?
ENST00000664402.1:c.1522delinsCC	ENSP00000499475.1:p.Ser508ProfsTer?
ENST00000673971.1:c.*1978delinsCC	ENSP00000501192.1:n.*1978delinsCC
ENST00000262795.5:c.3376delinsCC	ENSP00000489147.1:p.Ser1126ProfsTer?
ENST00000414786.6:n.3564delinsCC
ENST00000445220.5:c.3358delinsCC	ENSP00000489407.1:p.Ser1120ProfsTer?