Canonical Allele Identifier: CA1026687413

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697554-G-GCCCA
• gnomAD v4: 22-50697554-G-GCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697554_50697555insCCCA , CM000684.2:g.50697554_50697555insCCCA	GRCh38
NC_000022.10:g.51135982_51135983insCCCA , CM000684.1:g.51135982_51135983insCCCA	GRCh37
NC_000022.9:g.49482848_49482849insCCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-10_948-9insCCCA	ENSP00000489147.2:n.948-10_948-9insCCCA
ENST00000414786.7:n.1532-10_1532-9insCCCA
ENST00000673971.2:c.1305-10_1305-9insCCCA	ENSP00000501192.1:n.1305-10_1305-9insCCCA
ENST00000262795.6:c.948-10_948-9insCCCA	ENSP00000489147.2:n.948-10_948-9insCCCA
ENST00000673971.1:c.1305-10_1305-9insCCCA	ENSP00000501192.1:n.1305-10_1305-9insCCCA
ENST00000262795.5:c.1345-11_1345-10insCCCA	ENSP00000489147.1:n.1345-11_1345-10insCCCA
ENST00000414786.6:n.1532-10_1532-9insCCCA
ENST00000445220.5:c.1326-10_1326-9insCCCA	ENSP00000489407.1:n.1326-10_1326-9insCCCA