Canonical Allele Identifier: CA1026687302

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697547-CGAATTCGAGCT-C
• gnomAD v4: 22-50697547-CGAATTCGAGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697548_50697558del , CM000684.2:g.50697548_50697558del	GRCh38
NC_000022.10:g.51135976_51135986del , CM000684.1:g.51135976_51135986del	GRCh37
NC_000022.9:g.49482842_49482852del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-16_948-6del	ENSP00000489147.2:n.948-16_948-6del
ENST00000414786.7:n.1532-16_1532-6del
ENST00000673971.2:c.1305-16_1305-6del	ENSP00000501192.1:n.1305-16_1305-6del
ENST00000262795.6:c.948-16_948-6del	ENSP00000489147.2:n.948-16_948-6del
ENST00000673971.1:c.1305-16_1305-6del	ENSP00000501192.1:n.1305-16_1305-6del
ENST00000262795.5:c.1345-17_1345-7del	ENSP00000489147.1:n.1345-17_1345-7del
ENST00000414786.6:n.1532-16_1532-6del
ENST00000445220.5:c.1326-16_1326-6del	ENSP00000489407.1:n.1326-16_1326-6del