Canonical Allele Identifier: CA10326162

Gene: SHANK3

Linked Data

• dbSNP Id: rs756304885
• ExAC: 22:51160130 TGTC / T
• gnomAD v2: 22-51160130-TGTC-T
• gnomAD v4: 22-50721702-TGTC-T
• MyVariant Identifiers: chr22:g.51160131_51160133del (hg19) ; chr22:g.50721703_50721705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721706_50721708del , CM000684.2:g.50721706_50721708del	GRCh38
NC_000022.10:g.51160134_51160136del , CM000684.1:g.51160134_51160136del	GRCh37
NC_000022.9:g.49507000_49507002del	NCBI36
NG_008607.2:g.52352_52354del
NG_070230.1:g.57490_57492del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3474_3476del	ENSP00000489147.2:p.Ser1159del
ENST00000414786.7:n.4058_4060del
ENST00000445220.7:c.2526_2528del	ENSP00000489407.2:p.Ser843del
ENST00000664402.2:c.2016_2018del	ENSP00000499475.1:p.Ser673del
ENST00000673971.2:c.*2472_*2474del	ENSP00000501192.1:n.*2472_*2474del
ENST00000445220.6:c.2526_2528del	ENSP00000489407.2:p.Ser843del
ENST00000262795.6:c.3474_3476del	ENSP00000489147.2:p.Ser1159del
ENST00000664402.1:c.2016_2018del	ENSP00000499475.1:p.Ser673del
ENST00000673971.1:c.*2472_*2474del	ENSP00000501192.1:n.*2472_*2474del
ENST00000262795.5:c.3870_3872del	ENSP00000489147.1:p.Ser1291del
ENST00000414786.6:n.4058_4060del
ENST00000445220.5:c.3852_3854del	ENSP00000489407.1:p.Ser1285del