Canonical Allele Identifier: CA2657598130

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697553-C-CCGGGGCCGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697553_50697554insCGGGGCCGCG , CM000684.2:g.50697553_50697554insCGGGGCCGCG	GRCh38
NC_000022.10:g.51135981_51135982insCGGGGCCGCG , CM000684.1:g.51135981_51135982insCGGGGCCGCG	GRCh37
NC_000022.9:g.49482847_49482848insCGGGGCCGCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-11_948-10insCGGGGCCGCG	ENSP00000489147.2:n.948-11_948-10insCGGGGCCGCG
ENST00000414786.7:n.1532-11_1532-10insCGGGGCCGCG
ENST00000673971.2:c.1305-11_1305-10insCGGGGCCGCG	ENSP00000501192.1:n.1305-11_1305-10insCGGGGCCGCG
ENST00000262795.6:c.948-11_948-10insCGGGGCCGCG	ENSP00000489147.2:n.948-11_948-10insCGGGGCCGCG
ENST00000673971.1:c.1305-11_1305-10insCGGGGCCGCG	ENSP00000501192.1:n.1305-11_1305-10insCGGGGCCGCG
ENST00000262795.5:c.1345-12_1345-11insCGGGGCCGCG	ENSP00000489147.1:n.1345-12_1345-11insCGGGGCCGCG
ENST00000414786.6:n.1532-11_1532-10insCGGGGCCGCG
ENST00000445220.5:c.1326-11_1326-10insCGGGGCCGCG	ENSP00000489407.1:n.1326-11_1326-10insCGGGGCCGCG