Canonical Allele Identifier: CA515263157

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721670-G-A
• MyVariant Identifiers: chr22:g.51160098G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721670G>A , CM000684.2:g.50721670G>A	GRCh38
NC_000022.10:g.51160098G>A , CM000684.1:g.51160098G>A	GRCh37
NC_000022.9:g.49506964G>A	NCBI36
NG_008607.2:g.52316G>A
NG_070230.1:g.57454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3438G>A	ENSP00000489147.2:p.Leu1146=
ENST00000414786.7:n.4022G>A
ENST00000445220.7:c.2490G>A	ENSP00000489407.2:p.Leu830=
ENST00000664402.2:c.1980G>A	ENSP00000499475.1:p.Leu660=
ENST00000673971.2:c.*2436G>A	ENSP00000501192.1:n.*2436G>A
ENST00000445220.6:c.2490G>A	ENSP00000489407.2:p.Leu830=
ENST00000262795.6:c.3438G>A	ENSP00000489147.2:p.Leu1146=
ENST00000664402.1:c.1980G>A	ENSP00000499475.1:p.Leu660=
ENST00000673971.1:c.*2436G>A	ENSP00000501192.1:n.*2436G>A
ENST00000262795.5:c.3834G>A	ENSP00000489147.1:p.Leu1278=
ENST00000414786.6:n.4022G>A
ENST00000445220.5:c.3816G>A	ENSP00000489407.1:p.Leu1272=