Canonical Allele Identifier: CA2580099978

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1709005
• ClinVar RCV Id: RCV002288289
• gnomAD v4: 22-50721047-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721051del , CM000684.2:g.50721051del	GRCh38
NC_000022.10:g.51159479del , CM000684.1:g.51159479del	GRCh37
NC_000022.9:g.49506345del	NCBI36
NG_008607.2:g.51697del
NG_070230.1:g.56835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2819del	ENSP00000489147.2:p.Pro940ArgfsTer5
ENST00000414786.7:n.3403del
ENST00000445220.7:c.1871del	ENSP00000489407.2:p.Pro624ArgfsTer5
ENST00000664402.2:c.1361del	ENSP00000499475.1:p.Pro454ArgfsTer5
ENST00000673971.2:c.*1817del	ENSP00000501192.1:n.*1817del
ENST00000445220.6:c.1871del	ENSP00000489407.2:p.Pro624ArgfsTer5
ENST00000262795.6:c.2819del	ENSP00000489147.2:p.Pro940ArgfsTer5
ENST00000664402.1:c.1361del	ENSP00000499475.1:p.Pro454ArgfsTer5
ENST00000673971.1:c.*1817del	ENSP00000501192.1:n.*1817del
ENST00000262795.5:c.3215del	ENSP00000489147.1:p.Pro1072ArgfsTer5
ENST00000414786.6:n.3403del
ENST00000445220.5:c.3197del	ENSP00000489407.1:p.Pro1066ArgfsTer5