Canonical Allele Identifier: CA10581460

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 235854
• ClinVar RCV Id: RCV000224952
• dbSNP Id: rs1555910048
• MyVariant Identifiers: chr22:g.51159170_51159185dup16 (hg19) ; chr22:g.50720742_50720757dup16 (hg38)
• PubMed: PMID:25167861

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720742_50720757dup , CM000684.2:g.50720742_50720757dup	GRCh38
NC_000022.10:g.51159170_51159185dup , CM000684.1:g.51159170_51159185dup	GRCh37
NC_000022.9:g.49506036_49506051dup	NCBI36
NG_008607.2:g.51388_51403dup
NG_070230.1:g.56526_56541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2510_2525dup	ENSP00000489147.2:p.Pro843ArgfsTer?
ENST00000414786.7:n.3094_3109dup
ENST00000445220.7:c.1562_1577dup	ENSP00000489407.2:p.Pro527ArgfsTer?
ENST00000664402.2:c.1052_1067dup	ENSP00000499475.1:p.Pro357ArgfsTer?
ENST00000673971.2:c.*1508_*1523dup	ENSP00000501192.1:n.*1508_*1523dup
ENST00000445220.6:c.1562_1577dup	ENSP00000489407.2:p.Pro527ArgfsTer?
ENST00000262795.6:c.2510_2525dup	ENSP00000489147.2:p.Pro843ArgfsTer?
ENST00000664402.1:c.1052_1067dup	ENSP00000499475.1:p.Pro357ArgfsTer?
ENST00000673971.1:c.*1508_*1523dup	ENSP00000501192.1:n.*1508_*1523dup
ENST00000262795.5:c.2906_2921dup	ENSP00000489147.1:p.Pro975ArgfsTer?
ENST00000414786.6:n.3094_3109dup
ENST00000445220.5:c.2888_2903dup	ENSP00000489407.1:p.Pro969ArgfsTer?