Canonical Allele Identifier: CA1026687543

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697559-C-CCGGCCCCGCGCCCGGCCCG
• gnomAD v4: 22-50697559-C-CCGGCCCCGCGCCCGGCCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697559_50697560insCGGCCCCGCGCCCGGCCCG , CM000684.2:g.50697559_50697560insCGGCCCCGCGCCCGGCCCG	GRCh38
NC_000022.10:g.51135987_51135988insCGGCCCCGCGCCCGGCCCG , CM000684.1:g.51135987_51135988insCGGCCCCGCGCCCGGCCCG	GRCh37
NC_000022.9:g.49482853_49482854insCGGCCCCGCGCCCGGCCCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-5_948-4insCGGCCCCGCGCCCGGCCCG	ENSP00000489147.2:n.948-5_948-4insCGGCCCCGCGCCCGGCCCG
ENST00000414786.7:n.1532-5_1532-4insCGGCCCCGCGCCCGGCCCG
ENST00000673971.2:c.1305-5_1305-4insCGGCCCCGCGCCCGGCCCG	ENSP00000501192.1:n.1305-5_1305-4insCGGCCCCGCGCCCGGCCCG
ENST00000262795.6:c.948-5_948-4insCGGCCCCGCGCCCGGCCCG	ENSP00000489147.2:n.948-5_948-4insCGGCCCCGCGCCCGGCCCG
ENST00000673971.1:c.1305-5_1305-4insCGGCCCCGCGCCCGGCCCG	ENSP00000501192.1:n.1305-5_1305-4insCGGCCCCGCGCCCGGCCCG
ENST00000262795.5:c.1345-6_1345-5insCGGCCCCGCGCCCGGCCCG	ENSP00000489147.1:n.1345-6_1345-5insCGGCCCCGCGCCCGGCCCG
ENST00000414786.6:n.1532-5_1532-4insCGGCCCCGCGCCCGGCCCG
ENST00000445220.5:c.1326-5_1326-4insCGGCCCCGCGCCCGGCCCG	ENSP00000489407.1:n.1326-5_1326-4insCGGCCCCGCGCCCGGCCCG