Canonical Allele Identifier: CA640359042

Gene: SHANK3

Linked Data

• dbSNP Id: rs1453747117
• gnomAD v2: 22-51160331-TGGA-T
• gnomAD v4: 22-50721903-TGGA-T
• MyVariant Identifiers: chr22:g.51160332_51160334del (hg19) ; chr22:g.50721904_50721906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721909_50721911del , CM000684.2:g.50721909_50721911del	GRCh38
NC_000022.10:g.51160337_51160339del , CM000684.1:g.51160337_51160339del	GRCh37
NC_000022.9:g.49507203_49507205del	NCBI36
NG_008607.2:g.52555_52557del
NG_070230.1:g.57693_57695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3677_3679del	ENSP00000489147.2:p.Glu1226del
ENST00000414786.7:n.4261_4263del
ENST00000445220.7:c.2729_2731del	ENSP00000489407.2:p.Glu910del
ENST00000664402.2:c.2219_2221del	ENSP00000499475.1:p.Glu740del
ENST00000673971.2:c.*2675_*2677del	ENSP00000501192.1:n.*2675_*2677del
ENST00000445220.6:c.2729_2731del	ENSP00000489407.2:p.Glu910del
ENST00000262795.6:c.3677_3679del	ENSP00000489147.2:p.Glu1226del
ENST00000664402.1:c.2219_2221del	ENSP00000499475.1:p.Glu740del
ENST00000673971.1:c.*2675_*2677del	ENSP00000501192.1:n.*2675_*2677del
ENST00000262795.5:c.4073_4075del	ENSP00000489147.1:p.Glu1358del
ENST00000414786.6:n.4261_4263del
ENST00000445220.5:c.4055_4057del	ENSP00000489407.1:p.Glu1352del