Canonical Allele Identifier: CA325578138

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1691638
• ClinVar RCV Id: RCV002255044
• dbSNP Id: rs1048276757
• gnomAD v4: 22-50720555-CCCCCGCCCGCGGCCA-C
• MyVariant Identifiers: chr22:g.51158984_51158998del (hg19) ; chr22:g.50720556_50720570del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720565_50720579del , CM000684.2:g.50720565_50720579del	GRCh38
NC_000022.10:g.51158993_51159007del , CM000684.1:g.51158993_51159007del	GRCh37
NC_000022.9:g.49505859_49505873del	NCBI36
NG_008607.2:g.51211_51225del
NG_070230.1:g.56349_56363del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2333_2347del	ENSP00000489147.2:p.Ala778_Pro782del
ENST00000414786.7:n.2917_2931del
ENST00000445220.7:c.1385_1399del	ENSP00000489407.2:p.Ala462_Pro466del
ENST00000664402.2:c.875_889del	ENSP00000499475.1:p.Ala292_Pro296del
ENST00000673971.2:c.*1331_*1345del	ENSP00000501192.1:n.*1331_*1345del
ENST00000445220.6:c.1385_1399del	ENSP00000489407.2:p.Ala462_Pro466del
ENST00000262795.6:c.2333_2347del	ENSP00000489147.2:p.Ala778_Pro782del
ENST00000664402.1:c.875_889del	ENSP00000499475.1:p.Ala292_Pro296del
ENST00000673971.1:c.*1331_*1345del	ENSP00000501192.1:n.*1331_*1345del
ENST00000262795.5:c.2729_2743del	ENSP00000489147.1:p.Ala910_Pro914del
ENST00000414786.6:n.2917_2931del
ENST00000445220.5:c.2711_2725del	ENSP00000489407.1:p.Ala904_Pro908del