Canonical Allele Identifier: CA515263285

Gene: SHANK3

Linked Data

• dbSNP Id: rs1569116034
• gnomAD v2: 22-51160143-T-G
• gnomAD v4: 22-50721715-T-G
• MyVariant Identifiers: chr22:g.51160143T>G (hg19) ; chr22:g.51160143_51160146delinsGGAG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721715T>G , CM000684.2:g.50721715T>G	GRCh38
NC_000022.10:g.51160143T>G , CM000684.1:g.51160143T>G	GRCh37
NC_000022.9:g.49507009T>G	NCBI36
NG_008607.2:g.52361T>G
NG_070230.1:g.57499T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3483T>G	ENSP00000489147.2:p.Asp1161Glu
ENST00000414786.7:n.4067T>G
ENST00000445220.7:c.2535T>G	ENSP00000489407.2:p.Asp845Glu
ENST00000664402.2:c.2025T>G	ENSP00000499475.1:p.Asp675Glu
ENST00000673971.2:c.*2481T>G	ENSP00000501192.1:n.*2481T>G
ENST00000445220.6:c.2535T>G	ENSP00000489407.2:p.Asp845Glu
ENST00000262795.6:c.3483T>G	ENSP00000489147.2:p.Asp1161Glu
ENST00000664402.1:c.2025T>G	ENSP00000499475.1:p.Asp675Glu
ENST00000673971.1:c.*2481T>G	ENSP00000501192.1:n.*2481T>G
ENST00000262795.5:c.3879T>G	ENSP00000489147.1:p.Asp1293Glu
ENST00000414786.6:n.4067T>G
ENST00000445220.5:c.3861T>G	ENSP00000489407.1:p.Asp1287Glu