Canonical Allele Identifier: CA640358924

Gene: SHANK3

Linked Data

• dbSNP Id: rs1491564435
• gnomAD v2: 22-51135927-G-GCCATGGAGGCCCC
• gnomAD v3: 22-50697499-G-GCCATGGAGGCCCC
• gnomAD v4: 22-50697499-G-GCCATGGAGGCCCC
• MyVariant Identifiers: chr22:g.51135927_51135928insCCATGGAGGCCCC (hg19) ; chr22:g.50697499_50697500insCCATGGAGGCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697499_50697500insCCATGGAGGCCCC , CM000684.2:g.50697499_50697500insCCATGGAGGCCCC	GRCh38
NC_000022.10:g.51135927_51135928insCCATGGAGGCCCC , CM000684.1:g.51135927_51135928insCCATGGAGGCCCC	GRCh37
NC_000022.9:g.49482793_49482794insCCATGGAGGCCCC	NCBI36
NG_008607.2:g.27858_27859insCCATGGAGGCCCC
NG_070230.1:g.33077_33078insCCATGGAGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-65_948-64insCCATGGAGGCCCC	ENSP00000489147.2:n.948-65_948-64insCCATGGAGGCCCC
ENST00000414786.7:n.1532-65_1532-64insCCATGGAGGCCCC
ENST00000673971.2:c.1305-65_1305-64insCCATGGAGGCCCC	ENSP00000501192.1:n.1305-65_1305-64insCCATGGAGGCCCC
ENST00000262795.6:c.948-65_948-64insCCATGGAGGCCCC	ENSP00000489147.2:n.948-65_948-64insCCATGGAGGCCCC
ENST00000673971.1:c.1305-65_1305-64insCCATGGAGGCCCC	ENSP00000501192.1:n.1305-65_1305-64insCCATGGAGGCCCC
ENST00000262795.5:c.1345-66_1345-65insCCATGGAGGCCCC	ENSP00000489147.1:n.1345-66_1345-65insCCATGGAGGCCCC
ENST00000414786.6:n.1532-65_1532-64insCCATGGAGGCCCC
ENST00000445220.5:c.1326-65_1326-64insCCATGGAGGCCCC	ENSP00000489407.1:n.1326-65_1326-64insCCATGGAGGCCCC