Canonical Allele Identifier: CA1026686795

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697507-C-CG
• gnomAD v4: 22-50697507-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697508dup , CM000684.2:g.50697508dup	GRCh38
NC_000022.10:g.51135936dup , CM000684.1:g.51135936dup	GRCh37
NC_000022.9:g.49482802dup	NCBI36
NG_008607.2:g.27867dup
NG_070230.1:g.33086dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-56dup	ENSP00000489147.2:n.948-56dup
ENST00000414786.7:n.1532-56dup
ENST00000673971.2:c.1305-56dup	ENSP00000501192.1:n.1305-56dup
ENST00000262795.6:c.948-56dup	ENSP00000489147.2:n.948-56dup
ENST00000673971.1:c.1305-56dup	ENSP00000501192.1:n.1305-56dup
ENST00000262795.5:c.1345-57dup	ENSP00000489147.1:n.1345-57dup
ENST00000414786.6:n.1532-56dup
ENST00000445220.5:c.1326-56dup	ENSP00000489407.1:n.1326-56dup