Canonical Allele Identifier: CA640359008

Gene: SHANK3

Linked Data

• gnomAD v2: 22-51135991-T-TCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG
• gnomAD v3: 22-50697563-T-TCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG
• gnomAD v4: 22-50697563-T-TCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG
• MyVariant Identifiers: chr22:g.51135991_51135992insCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG (hg19) ; chr22:g.50697563_50697564insCGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697564_50697565insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC , CM000684.2:g.50697564_50697565insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	GRCh38
NC_000022.10:g.51135992_51135993insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC , CM000684.1:g.51135992_51135993insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	GRCh37
NC_000022.9:g.49482858_49482859insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	NCBI36
NG_008607.2:g.28210_28211insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC
NG_070230.1:g.33429_33430insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948_949insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	ENSP00000489147.2:p.Ser316_Pro317insValTyrSerProSerGlyProGlyG...
ENST00000414786.7:n.1532_1533insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC
ENST00000673971.2:c.1305_1306insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	ENSP00000501192.1:p.Ser435_Pro436insValTyrSerProSerGlyProGlyG...
ENST00000262795.6:c.948_949insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	ENSP00000489147.2:p.Ser316_Pro317insValTyrSerProSerGlyProGlyG...
ENST00000673971.1:c.1305_1306insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	ENSP00000501192.1:p.Ser435_Pro436insValTyrSerProSerGlyProGlyG...
ENST00000673995.1:c.1_2insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC
ENST00000262795.5:c.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	ENSP00000489147.1:n.1345-1_1345insGTCTACAGCCCGAGCGGGCCCGGCGGC...
ENST00000414786.6:n.1532_1533insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC
ENST00000445220.5:c.1326_1327insGTCTACAGCCCGAGCGGGCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGC	ENSP00000489407.1:p.Cys442_Pro443insValTyrSerProSerGlyProGlyG...