Canonical Allele Identifier: CA10603523

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 280713
• ClinVar RCV Id: RCV000322866
• dbSNP Id: rs886041869
• gnomAD v4: 22-50720758-TC-T
• MyVariant Identifiers: chr22:g.51159189del (hg19) ; chr22:g.50720761del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720761del , CM000684.2:g.50720761del	GRCh38
NC_000022.10:g.51159189del , CM000684.1:g.51159189del	GRCh37
NC_000022.9:g.49506055del	NCBI36
NG_008607.2:g.51407del
NG_070230.1:g.56545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2529del	ENSP00000489147.2:p.Gly844AlafsTer?
ENST00000414786.7:n.3113del
ENST00000445220.7:c.1581del	ENSP00000489407.2:p.Gly528AlafsTer?
ENST00000664402.2:c.1071del	ENSP00000499475.1:p.Gly358AlafsTer?
ENST00000673971.2:c.*1527del	ENSP00000501192.1:n.*1527del
ENST00000445220.6:c.1581del	ENSP00000489407.2:p.Gly528AlafsTer?
ENST00000262795.6:c.2529del	ENSP00000489147.2:p.Gly844AlafsTer?
ENST00000664402.1:c.1071del	ENSP00000499475.1:p.Gly358AlafsTer?
ENST00000673971.1:c.*1527del	ENSP00000501192.1:n.*1527del
ENST00000262795.5:c.2925del	ENSP00000489147.1:p.Gly976AlafsTer?
ENST00000414786.6:n.3113del
ENST00000445220.5:c.2907del	ENSP00000489407.1:p.Gly970AlafsTer?