Canonical Allele Identifier: CA2657580942

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50714833-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714833T>A , CM000684.2:g.50714833T>A	GRCh38
NC_000022.10:g.51153261T>A , CM000684.1:g.51153261T>A	GRCh37
NC_000022.9:g.49500127T>A	NCBI36
NG_008607.2:g.45479T>A
NG_070230.1:g.50699T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.1736-84T>A	ENSP00000489147.2:n.1736-84T>A
ENST00000414786.7:n.2320-84T>A
ENST00000445220.7:c.788-84T>A	ENSP00000489407.2:n.788-84T>A
ENST00000664402.2:c.278-84T>A	ENSP00000499475.1:n.278-84T>A
ENST00000673971.2:c.*734-84T>A	ENSP00000501192.1:n.*734-84T>A
ENST00000445220.6:c.788-84T>A	ENSP00000489407.2:n.788-84T>A
ENST00000262795.6:c.1736-84T>A	ENSP00000489147.2:n.1736-84T>A
ENST00000664402.1:c.278-84T>A	ENSP00000499475.1:n.278-84T>A
ENST00000673971.1:c.*734-84T>A	ENSP00000501192.1:n.*734-84T>A
ENST00000262795.5:c.2132-84T>A	ENSP00000489147.1:n.2132-84T>A
ENST00000414786.6:n.2320-84T>A
ENST00000445220.5:c.2114-84T>A	ENSP00000489407.1:n.2114-84T>A