Canonical Allele Identifier: CA1139667199

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 978894
• ClinVar RCV Id: RCV001257674 ; RCV003127737
• dbSNP Id: rs2083275928

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720598del , CM000684.2:g.50720598del	GRCh38
NC_000022.10:g.51159026del , CM000684.1:g.51159026del	GRCh37
NC_000022.9:g.49505892del	NCBI36
NG_008607.2:g.51244del
NG_070230.1:g.56382del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2366del	ENSP00000489147.2:p.Pro789ArgfsTer?
ENST00000414786.7:n.2950del
ENST00000445220.7:c.1418del	ENSP00000489407.2:p.Pro473ArgfsTer?
ENST00000664402.2:c.908del	ENSP00000499475.1:p.Pro303ArgfsTer?
ENST00000673971.2:c.*1364del	ENSP00000501192.1:n.*1364del
ENST00000445220.6:c.1418del	ENSP00000489407.2:p.Pro473ArgfsTer?
ENST00000262795.6:c.2366del	ENSP00000489147.2:p.Pro789ArgfsTer?
ENST00000664402.1:c.908del	ENSP00000499475.1:p.Pro303ArgfsTer?
ENST00000673971.1:c.*1364del	ENSP00000501192.1:n.*1364del
ENST00000262795.5:c.2762del	ENSP00000489147.1:p.Pro921ArgfsTer?
ENST00000414786.6:n.2950del
ENST00000445220.5:c.2744del	ENSP00000489407.1:p.Pro915ArgfsTer?