Canonical Allele Identifier: CA2410995306

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697539_50697552delinsGCTGTATTCGAATT , CM000684.2:g.50697539_50697552delinsGCTGTATTCGAATT	GRCh38
NC_000022.10:g.51135967_51135980delinsGCTGTATTCGAATT , CM000684.1:g.51135967_51135980delinsGCTGTATTCGAATT	GRCh37
NC_000022.9:g.49482833_49482846delinsGCTGTATTCGAATT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-25_948-12delinsGCTGTATTCGAATT	ENSP00000489147.2:n.948-25_948-12delinsGCTGTATTCGAATT
ENST00000414786.7:n.1532-25_1532-12delinsGCTGTATTCGAATT
ENST00000673971.2:c.1305-25_1305-12delinsGCTGTATTCGAATT	ENSP00000501192.1:n.1305-25_1305-12delinsGCTGTATTCGAATT
ENST00000262795.6:c.948-25_948-12delinsGCTGTATTCGAATT	ENSP00000489147.2:n.948-25_948-12delinsGCTGTATTCGAATT
ENST00000673971.1:c.1305-25_1305-12delinsGCTGTATTCGAATT	ENSP00000501192.1:n.1305-25_1305-12delinsGCTGTATTCGAATT
ENST00000262795.5:c.1345-26_1345-13delinsGCTGTATTCGAATT	ENSP00000489147.1:n.1345-26_1345-13delinsGCTGTATTCGAATT
ENST00000414786.6:n.1532-25_1532-12delinsGCTGTATTCGAATT
ENST00000445220.5:c.1326-25_1326-12delinsGCTGTATTCGAATT	ENSP00000489407.1:n.1326-25_1326-12delinsGCTGTATTCGAATT