Canonical Allele Identifier: CA1026687227

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697542-GTATTCGAATTCGAGCT-G
• gnomAD v4: 22-50697542-GTATTCGAATTCGAGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697543_50697558del , CM000684.2:g.50697543_50697558del	GRCh38
NC_000022.10:g.51135971_51135986del , CM000684.1:g.51135971_51135986del	GRCh37
NC_000022.9:g.49482837_49482852del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-21_948-6del	ENSP00000489147.2:n.948-21_948-6del
ENST00000414786.7:n.1532-21_1532-6del
ENST00000673971.2:c.1305-21_1305-6del	ENSP00000501192.1:n.1305-21_1305-6del
ENST00000262795.6:c.948-21_948-6del	ENSP00000489147.2:n.948-21_948-6del
ENST00000673971.1:c.1305-21_1305-6del	ENSP00000501192.1:n.1305-21_1305-6del
ENST00000262795.5:c.1345-22_1345-7del	ENSP00000489147.1:n.1345-22_1345-7del
ENST00000414786.6:n.1532-21_1532-6del
ENST00000445220.5:c.1326-21_1326-6del	ENSP00000489407.1:n.1326-21_1326-6del