Canonical Allele Identifier: CA2410995273

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697512_50697522delinsCATGGAGCGAG , CM000684.2:g.50697512_50697522delinsCATGGAGCGAG	GRCh38
NC_000022.10:g.51135940_51135950delinsCATGGAGCGAG , CM000684.1:g.51135940_51135950delinsCATGGAGCGAG	GRCh37
NC_000022.9:g.49482806_49482816delinsCATGGAGCGAG	NCBI36
NG_008607.2:g.27871_27881delinsCATGGAGCGAG
NG_070230.1:g.33090_33100delinsCATGGAGCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-52_948-42delinsCATGGAGCGAG	ENSP00000489147.2:n.948-52_948-42delinsCATGGAGCGAG
ENST00000414786.7:n.1532-52_1532-42delinsCATGGAGCGAG
ENST00000673971.2:c.1305-52_1305-42delinsCATGGAGCGAG	ENSP00000501192.1:n.1305-52_1305-42delinsCATGGAGCGAG
ENST00000262795.6:c.948-52_948-42delinsCATGGAGCGAG	ENSP00000489147.2:n.948-52_948-42delinsCATGGAGCGAG
ENST00000673971.1:c.1305-52_1305-42delinsCATGGAGCGAG	ENSP00000501192.1:n.1305-52_1305-42delinsCATGGAGCGAG
ENST00000262795.5:c.1345-53_1345-43delinsCATGGAGCGAG	ENSP00000489147.1:n.1345-53_1345-43delinsCATGGAGCGAG
ENST00000414786.6:n.1532-52_1532-42delinsCATGGAGCGAG
ENST00000445220.5:c.1326-52_1326-42delinsCATGGAGCGAG	ENSP00000489407.1:n.1326-52_1326-42delinsCATGGAGCGAG