Canonical Allele Identifier: CA2657597448

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697447-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697447C>A , CM000684.2:g.50697447C>A	GRCh38
NC_000022.10:g.51135875C>A , CM000684.1:g.51135875C>A	GRCh37
NC_000022.9:g.49482741C>A	NCBI36
NG_008607.2:g.27806C>A
NG_070230.1:g.33025C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-117C>A	ENSP00000489147.2:n.948-117C>A
ENST00000414786.7:n.1532-117C>A
ENST00000673971.2:c.1305-117C>A	ENSP00000501192.1:n.1305-117C>A
ENST00000262795.6:c.948-117C>A	ENSP00000489147.2:n.948-117C>A
ENST00000673971.1:c.1305-117C>A	ENSP00000501192.1:n.1305-117C>A
ENST00000262795.5:c.1345-118C>A	ENSP00000489147.1:n.1345-118C>A
ENST00000414786.6:n.1532-117C>A
ENST00000445220.5:c.1326-117C>A	ENSP00000489407.1:n.1326-117C>A