Canonical Allele Identifier: CA2819316110

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720847_50720848insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT , CM000684.2:g.50720847_50720848insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	GRCh38
NC_000022.10:g.51159275_51159276insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT , CM000684.1:g.51159275_51159276insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	GRCh37
NC_000022.9:g.49506141_49506142insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	NCBI36
NG_008607.2:g.51493_51494insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT
NG_070230.1:g.56631_56632insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2615_2616insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000489147.2:p.Gly873ArgfsTer?
ENST00000414786.7:n.3199_3200insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT
ENST00000445220.7:c.1667_1668insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000489407.2:p.Gly557ArgfsTer?
ENST00000664402.2:c.1157_1158insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000499475.1:p.Gly387ArgfsTer?
ENST00000673971.2:c.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000501192.1:n.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGT...
ENST00000445220.6:c.1667_1668insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000489407.2:p.Gly557ArgfsTer?
ENST00000262795.6:c.2615_2616insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000489147.2:p.Gly873ArgfsTer?
ENST00000664402.1:c.1157_1158insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000499475.1:p.Gly387ArgfsTer?
ENST00000673971.1:c.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000501192.1:n.*1613_*1614insACGAGGTCAGTTTGCCCGTCGCCGGGT...
ENST00000262795.5:c.3011_3012insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000489147.1:p.Gly1005ArgfsTer?
ENST00000414786.6:n.3199_3200insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT
ENST00000445220.5:c.2993_2994insACGAGGTCAGTTTGCCCGTCGCCGGGTAGATCGGGAT	ENSP00000489407.1:p.Gly999ArgfsTer?