Canonical Allele Identifier: CA1026687588

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697563-T-TCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGG
• gnomAD v4: 22-50697563-T-TCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697564_50697565insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC , CM000684.2:g.50697564_50697565insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	GRCh38
NC_000022.10:g.51135992_51135993insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC , CM000684.1:g.51135992_51135993insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	GRCh37
NC_000022.9:g.49482858_49482859insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	NCBI36
NG_008607.2:g.28210_28211insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC
NG_070230.1:g.33429_33430insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948_949insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	ENSP00000489147.2:p.Ser316_Pro317insValTyrSerProSerGlyProGlyG...
ENST00000414786.7:n.1532_1533insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC
ENST00000673971.2:c.1305_1306insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	ENSP00000501192.1:p.Ser435_Pro436insValTyrSerProSerGlyProGlyG...
ENST00000262795.6:c.948_949insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	ENSP00000489147.2:p.Ser316_Pro317insValTyrSerProSerGlyProGlyG...
ENST00000673971.1:c.1305_1306insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	ENSP00000501192.1:p.Ser435_Pro436insValTyrSerProSerGlyProGlyG...
ENST00000673995.1:c.1_2insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC
ENST00000262795.5:c.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	ENSP00000489147.1:n.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGC...
ENST00000414786.6:n.1532_1533insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC
ENST00000445220.5:c.1326_1327insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGC	ENSP00000489407.1:p.Cys442_Pro443insValTyrSerProSerGlyProGlyG...