Canonical Allele Identifier: CA640358983

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083089465
• gnomAD v2: 22-51135970-G-GCCCCCCGGCATCGCGTCCGTCACC
• gnomAD v3: 22-50697542-G-GCCCCCCGGCATCGCGTCCGTCACC
• gnomAD v4: 22-50697542-G-GCCCCCCGGCATCGCGTCCGTCACC
• MyVariant Identifiers: chr22:g.51135971delinsCCCCCCGGCATCGCGTCCGTCACCT (hg19) ; chr22:g.50697543delinsCCCCCCGGCATCGCGTCCGTCACCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697542_50697543insCCCCCCGGCATCGCGTCCGTCACC , CM000684.2:g.50697542_50697543insCCCCCCGGCATCGCGTCCGTCACC	GRCh38
NC_000022.10:g.51135970_51135971insCCCCCCGGCATCGCGTCCGTCACC , CM000684.1:g.51135970_51135971insCCCCCCGGCATCGCGTCCGTCACC	GRCh37
NC_000022.9:g.49482836_49482837insCCCCCCGGCATCGCGTCCGTCACC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-22_948-21insCCCCCCGGCATCGCGTCCGTCACC	ENSP00000489147.2:n.948-22_948-21insCCCCCCGGCATCGCGTCCGTCACC
ENST00000414786.7:n.1532-22_1532-21insCCCCCCGGCATCGCGTCCGTCACC
ENST00000673971.2:c.1305-22_1305-21insCCCCCCGGCATCGCGTCCGTCACC	ENSP00000501192.1:n.1305-22_1305-21insCCCCCCGGCATCGCGTCCGTCAC...
ENST00000262795.6:c.948-22_948-21insCCCCCCGGCATCGCGTCCGTCACC	ENSP00000489147.2:n.948-22_948-21insCCCCCCGGCATCGCGTCCGTCACC
ENST00000673971.1:c.1305-22_1305-21insCCCCCCGGCATCGCGTCCGTCACC	ENSP00000501192.1:n.1305-22_1305-21insCCCCCCGGCATCGCGTCCGTCAC...
ENST00000262795.5:c.1345-23_1345-22insCCCCCCGGCATCGCGTCCGTCACC	ENSP00000489147.1:n.1345-23_1345-22insCCCCCCGGCATCGCGTCCGTCAC...
ENST00000414786.6:n.1532-22_1532-21insCCCCCCGGCATCGCGTCCGTCACC
ENST00000445220.5:c.1326-22_1326-21insCCCCCCGGCATCGCGTCCGTCACC	ENSP00000489407.1:n.1326-22_1326-21insCCCCCCGGCATCGCGTCCGTCAC...