Canonical Allele Identifier: CA1026686964

Gene: SHANK3

Linked Data

• dbSNP Id: rs1183389448
• gnomAD v3: 22-50697527-G-GC
• gnomAD v4: 22-50697527-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697528dup , CM000684.2:g.50697528dup	GRCh38
NC_000022.10:g.51135956dup , CM000684.1:g.51135956dup	GRCh37
NC_000022.9:g.49482822dup	NCBI36
NG_008607.2:g.27887dup
NG_070230.1:g.33106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-36dup	ENSP00000489147.2:n.948-36dup
ENST00000414786.7:n.1532-36dup
ENST00000673971.2:c.1305-36dup	ENSP00000501192.1:n.1305-36dup
ENST00000262795.6:c.948-36dup	ENSP00000489147.2:n.948-36dup
ENST00000673971.1:c.1305-36dup	ENSP00000501192.1:n.1305-36dup
ENST00000262795.5:c.1345-37dup	ENSP00000489147.1:n.1345-37dup
ENST00000414786.6:n.1532-36dup
ENST00000445220.5:c.1326-36dup	ENSP00000489407.1:n.1326-36dup