Canonical Allele Identifier: CA658799568

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 503925
• ClinVar RCV Id: RCV000599341
• dbSNP Id: rs1555908598
• MyVariant Identifiers: chr22:g.51142633dup (hg19) ; chr22:g.50704205dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50704205dup , CM000684.2:g.50704205dup	GRCh38
NC_000022.10:g.51142633dup , CM000684.1:g.51142633dup	GRCh37
NC_000022.9:g.49489499dup	NCBI36
NG_008607.2:g.34851dup
NG_070230.1:g.40070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1329dup	ENSP00000489147.2:p.Arg444ThrfsTer?
ENST00000414786.7:n.1913dup
ENST00000445220.7:c.381dup	ENSP00000489407.2:p.Arg128ThrfsTer?
ENST00000673971.2:c.1686dup	ENSP00000501192.1:p.Arg563ThrfsTer?
ENST00000445220.6:c.381dup	ENSP00000489407.2:p.Arg128ThrfsTer?
ENST00000262795.6:c.1329dup	ENSP00000489147.2:p.Arg444ThrfsTer?
ENST00000673971.1:c.1686dup	ENSP00000501192.1:p.Arg563ThrfsTer?
ENST00000262795.5:c.1725dup	ENSP00000489147.1:p.Arg576ThrfsTer?
ENST00000414786.6:n.1913dup
ENST00000445220.5:c.1707dup	ENSP00000489407.1:p.Arg570ThrfsTer?