Canonical Allele Identifier: CA515266921

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50730943-C-G
• MyVariant Identifiers: chr22:g.51169371C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50730943C>G , CM000684.2:g.50730943C>G	GRCh38
NC_000022.10:g.51169371C>G , CM000684.1:g.51169371C>G	GRCh37
NC_000022.9:g.49516237C>G	NCBI36
NG_008607.2:g.61589C>G
NG_070230.1:g.66727C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.4455C>G	ENSP00000489147.2:p.Leu1485=
ENST00000414786.7:n.5039C>G
ENST00000445220.7:c.3507C>G	ENSP00000489407.2:p.Leu1169=
ENST00000664402.2:c.2997C>G	ENSP00000499475.1:p.Leu999=
ENST00000673971.2:c.*3453C>G	ENSP00000501192.1:n.*3453C>G
ENST00000445220.6:c.3507C>G	ENSP00000489407.2:p.Leu1169=
ENST00000262795.6:c.4455C>G	ENSP00000489147.2:p.Leu1485=
ENST00000659388.1:c.270C>G	ENSP00000499632.1:p.Leu90=
ENST00000664402.1:c.2997C>G	ENSP00000499475.1:p.Leu999=
ENST00000673971.1:c.*3453C>G	ENSP00000501192.1:n.*3453C>G
ENST00000262795.5:c.4824C>G	ENSP00000489147.1:p.Leu1608=
ENST00000414786.6:n.5039C>G
ENST00000445220.5:c.4806C>G	ENSP00000489407.1:p.Leu1602=