Canonical Allele Identifier: CA2657580953

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50714844-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714844C>A , CM000684.2:g.50714844C>A	GRCh38
NC_000022.10:g.51153272C>A , CM000684.1:g.51153272C>A	GRCh37
NC_000022.9:g.49500138C>A	NCBI36
NG_008607.2:g.45490C>A
NG_070230.1:g.50710C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.1736-73C>A	ENSP00000489147.2:n.1736-73C>A
ENST00000414786.7:n.2320-73C>A
ENST00000445220.7:c.788-73C>A	ENSP00000489407.2:n.788-73C>A
ENST00000664402.2:c.278-73C>A	ENSP00000499475.1:n.278-73C>A
ENST00000673971.2:c.*734-73C>A	ENSP00000501192.1:n.*734-73C>A
ENST00000445220.6:c.788-73C>A	ENSP00000489407.2:n.788-73C>A
ENST00000262795.6:c.1736-73C>A	ENSP00000489147.2:n.1736-73C>A
ENST00000664402.1:c.278-73C>A	ENSP00000499475.1:n.278-73C>A
ENST00000673971.1:c.*734-73C>A	ENSP00000501192.1:n.*734-73C>A
ENST00000262795.5:c.2132-73C>A	ENSP00000489147.1:n.2132-73C>A
ENST00000414786.6:n.2320-73C>A
ENST00000445220.5:c.2114-73C>A	ENSP00000489407.1:n.2114-73C>A