Canonical Allele Identifier: CA2577768288

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697472-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697472A>G , CM000684.2:g.50697472A>G	GRCh38
NC_000022.10:g.51135900A>G , CM000684.1:g.51135900A>G	GRCh37
NC_000022.9:g.49482766A>G	NCBI36
NG_008607.2:g.27831A>G
NG_070230.1:g.33050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-92A>G	ENSP00000489147.2:n.948-92A>G
ENST00000414786.7:n.1532-92A>G
ENST00000673971.2:c.1305-92A>G	ENSP00000501192.1:n.1305-92A>G
ENST00000262795.6:c.948-92A>G	ENSP00000489147.2:n.948-92A>G
ENST00000673971.1:c.1305-92A>G	ENSP00000501192.1:n.1305-92A>G
ENST00000262795.5:c.1345-93A>G	ENSP00000489147.1:n.1345-93A>G
ENST00000414786.6:n.1532-92A>G
ENST00000445220.5:c.1326-92A>G	ENSP00000489407.1:n.1326-92A>G