Canonical Allele Identifier: CA1026687364

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697552-T-TGCCC
• gnomAD v4: 22-50697552-T-TGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697552_50697553insGCCC , CM000684.2:g.50697552_50697553insGCCC	GRCh38
NC_000022.10:g.51135980_51135981insGCCC , CM000684.1:g.51135980_51135981insGCCC	GRCh37
NC_000022.9:g.49482846_49482847insGCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-12_948-11insGCCC	ENSP00000489147.2:n.948-12_948-11insGCCC
ENST00000414786.7:n.1532-12_1532-11insGCCC
ENST00000673971.2:c.1305-12_1305-11insGCCC	ENSP00000501192.1:n.1305-12_1305-11insGCCC
ENST00000262795.6:c.948-12_948-11insGCCC	ENSP00000489147.2:n.948-12_948-11insGCCC
ENST00000673971.1:c.1305-12_1305-11insGCCC	ENSP00000501192.1:n.1305-12_1305-11insGCCC
ENST00000262795.5:c.1345-13_1345-12insGCCC	ENSP00000489147.1:n.1345-13_1345-12insGCCC
ENST00000414786.6:n.1532-12_1532-11insGCCC
ENST00000445220.5:c.1326-12_1326-11insGCCC	ENSP00000489407.1:n.1326-12_1326-11insGCCC