Canonical Allele Identifier: CA2410995314

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697542_50697583delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC , CM000684.2:g.50697542_50697583delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC	GRCh38
NC_000022.10:g.51135970_51136011delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC , CM000684.1:g.51135970_51136011delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC	GRCh37
NC_000022.9:g.49482836_49482877delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-22_967delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000414786.7:n.1532-22_1551delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000673971.2:c.1305-22_1324delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000262795.6:c.948-22_967delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000673971.1:c.1305-22_1324delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000262795.5:c.1345-23_1363delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000414786.6:n.1532-22_1551delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC
ENST00000445220.5:c.1326-22_1345delinsGTATTCGAATTCGAGCTCGGTTCCCCGCGCCCCCTGCGCCCC