Canonical Allele Identifier: CA515264915

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 1675899
• ClinVar RCV Id: RCV002214268
• dbSNP Id: rs2146833570
• MyVariant Identifiers: chr22:g.51160683G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722255G>A , CM000684.2:g.50722255G>A	GRCh38
NC_000022.10:g.51160683G>A , CM000684.1:g.51160683G>A	GRCh37
NC_000022.9:g.49507549G>A	NCBI36
NG_008607.2:g.52901G>A
NG_070230.1:g.58039G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4023G>A	ENSP00000489147.2:p.Trp1341Ter
ENST00000414786.7:n.4607G>A
ENST00000445220.7:c.3075G>A	ENSP00000489407.2:p.Trp1025Ter
ENST00000664402.2:c.2565G>A	ENSP00000499475.1:p.Trp855Ter
ENST00000673971.2:c.*3021G>A	ENSP00000501192.1:n.*3021G>A
ENST00000445220.6:c.3075G>A	ENSP00000489407.2:p.Trp1025Ter
ENST00000262795.6:c.4023G>A	ENSP00000489147.2:p.Trp1341Ter
ENST00000664402.1:c.2565G>A	ENSP00000499475.1:p.Trp855Ter
ENST00000673971.1:c.*3021G>A	ENSP00000501192.1:n.*3021G>A
ENST00000262795.5:c.4419G>A	ENSP00000489147.1:p.Trp1473Ter
ENST00000414786.6:n.4607G>A
ENST00000445220.5:c.4401G>A	ENSP00000489407.1:p.Trp1467Ter