Canonical Allele Identifier: CA1026687146

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697540-CTGTATTCGAATTCGA-C
• gnomAD v4: 22-50697540-CTGTATTCGAATTCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697541_50697555del , CM000684.2:g.50697541_50697555del	GRCh38
NC_000022.10:g.51135969_51135983del , CM000684.1:g.51135969_51135983del	GRCh37
NC_000022.9:g.49482835_49482849del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-23_948-9del	ENSP00000489147.2:n.948-23_948-9del
ENST00000414786.7:n.1532-23_1532-9del
ENST00000673971.2:c.1305-23_1305-9del	ENSP00000501192.1:n.1305-23_1305-9del
ENST00000262795.6:c.948-23_948-9del	ENSP00000489147.2:n.948-23_948-9del
ENST00000673971.1:c.1305-23_1305-9del	ENSP00000501192.1:n.1305-23_1305-9del
ENST00000262795.5:c.1345-24_1345-10del	ENSP00000489147.1:n.1345-24_1345-10del
ENST00000414786.6:n.1532-23_1532-9del
ENST00000445220.5:c.1326-23_1326-9del	ENSP00000489407.1:n.1326-23_1326-9del