Canonical Allele Identifier: CA2592022313

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697544-A-AGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC
• gnomAD v4: 22-50697544-A-AGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697544_50697545insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC , CM000684.2:g.50697544_50697545insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	GRCh38
NC_000022.10:g.51135972_51135973insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC , CM000684.1:g.51135972_51135973insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	GRCh37
NC_000022.9:g.49482838_49482839insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-20_948-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	ENSP00000489147.2:n.948-20_948-19insGCGGGCGCGGCTCGTGCGCTGGCGG...
ENST00000414786.7:n.1532-20_1532-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC
ENST00000673971.2:c.1305-20_1305-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	ENSP00000501192.1:n.1305-20_1305-19insGCGGGCGCGGCTCGTGCGCTGGC...
ENST00000262795.6:c.948-20_948-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	ENSP00000489147.2:n.948-20_948-19insGCGGGCGCGGCTCGTGCGCTGGCGG...
ENST00000673971.1:c.1305-20_1305-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	ENSP00000501192.1:n.1305-20_1305-19insGCGGGCGCGGCTCGTGCGCTGGC...
ENST00000262795.5:c.1345-21_1345-20insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	ENSP00000489147.1:n.1345-21_1345-20insGCGGGCGCGGCTCGTGCGCTGGC...
ENST00000414786.6:n.1532-20_1532-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC
ENST00000445220.5:c.1326-20_1326-19insGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCCGGC	ENSP00000489407.1:n.1326-20_1326-19insGCGGGCGCGGCTCGTGCGCTGGC...