Canonical Allele Identifier: CA640359043

Gene: SHANK3

Linked Data

• dbSNP Id: rs1409480406
• gnomAD v2: 22-51160379-CAAG-C
• gnomAD v3: 22-50721951-CAAG-C
• gnomAD v4: 22-50721951-CAAG-C
• MyVariant Identifiers: chr22:g.51160380_51160382del (hg19) ; chr22:g.50721952_50721954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721952_50721954del , CM000684.2:g.50721952_50721954del	GRCh38
NC_000022.10:g.51160380_51160382del , CM000684.1:g.51160380_51160382del	GRCh37
NC_000022.9:g.49507246_49507248del	NCBI36
NG_008607.2:g.52598_52600del
NG_070230.1:g.57736_57738del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3720_3722del	ENSP00000489147.2:p.Ser1241del
ENST00000414786.7:n.4304_4306del
ENST00000445220.7:c.2772_2774del	ENSP00000489407.2:p.Ser925del
ENST00000664402.2:c.2262_2264del	ENSP00000499475.1:p.Ser755del
ENST00000673971.2:c.*2718_*2720del	ENSP00000501192.1:n.*2718_*2720del
ENST00000445220.6:c.2772_2774del	ENSP00000489407.2:p.Ser925del
ENST00000262795.6:c.3720_3722del	ENSP00000489147.2:p.Ser1241del
ENST00000664402.1:c.2262_2264del	ENSP00000499475.1:p.Ser755del
ENST00000673971.1:c.*2718_*2720del	ENSP00000501192.1:n.*2718_*2720del
ENST00000262795.5:c.4116_4118del	ENSP00000489147.1:p.Ser1373del
ENST00000414786.6:n.4304_4306del
ENST00000445220.5:c.4098_4100del	ENSP00000489407.1:p.Ser1367del