Canonical Allele Identifier: CA2410995310

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697540_50697552delinsCTGTATTCGAATT , CM000684.2:g.50697540_50697552delinsCTGTATTCGAATT	GRCh38
NC_000022.10:g.51135968_51135980delinsCTGTATTCGAATT , CM000684.1:g.51135968_51135980delinsCTGTATTCGAATT	GRCh37
NC_000022.9:g.49482834_49482846delinsCTGTATTCGAATT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-24_948-12delinsCTGTATTCGAATT	ENSP00000489147.2:n.948-24_948-12delinsCTGTATTCGAATT
ENST00000414786.7:n.1532-24_1532-12delinsCTGTATTCGAATT
ENST00000673971.2:c.1305-24_1305-12delinsCTGTATTCGAATT	ENSP00000501192.1:n.1305-24_1305-12delinsCTGTATTCGAATT
ENST00000262795.6:c.948-24_948-12delinsCTGTATTCGAATT	ENSP00000489147.2:n.948-24_948-12delinsCTGTATTCGAATT
ENST00000673971.1:c.1305-24_1305-12delinsCTGTATTCGAATT	ENSP00000501192.1:n.1305-24_1305-12delinsCTGTATTCGAATT
ENST00000262795.5:c.1345-25_1345-13delinsCTGTATTCGAATT	ENSP00000489147.1:n.1345-25_1345-13delinsCTGTATTCGAATT
ENST00000414786.6:n.1532-24_1532-12delinsCTGTATTCGAATT
ENST00000445220.5:c.1326-24_1326-12delinsCTGTATTCGAATT	ENSP00000489407.1:n.1326-24_1326-12delinsCTGTATTCGAATT