Canonical Allele Identifier: CA2819325430

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697542_50697543insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC , CM000684.2:g.50697542_50697543insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	GRCh38
NC_000022.10:g.51135970_51135971insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC , CM000684.1:g.51135970_51135971insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	GRCh37
NC_000022.9:g.49482836_49482837insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-22_948-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	ENSP00000489147.2:n.948-22_948-21insAGCGGGCGCGGCTCGTGCGCTGGCG...
ENST00000414786.7:n.1532-22_1532-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC
ENST00000673971.2:c.1305-22_1305-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	ENSP00000501192.1:n.1305-22_1305-21insAGCGGGCGCGGCTCGTGCGCTGG...
ENST00000262795.6:c.948-22_948-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	ENSP00000489147.2:n.948-22_948-21insAGCGGGCGCGGCTCGTGCGCTGGCG...
ENST00000673971.1:c.1305-22_1305-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	ENSP00000501192.1:n.1305-22_1305-21insAGCGGGCGCGGCTCGTGCGCTGG...
ENST00000262795.5:c.1345-23_1345-22insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	ENSP00000489147.1:n.1345-23_1345-22insAGCGGGCGCGGCTCGTGCGCTGG...
ENST00000414786.6:n.1532-22_1532-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC
ENST00000445220.5:c.1326-22_1326-21insAGCGGGCGCGGCTCGTGCGCTGGCGGGAGCGGGCCGGGCGCGGCGGCCGTCACC	ENSP00000489407.1:n.1326-22_1326-21insAGCGGGCGCGGCTCGTGCGCTGG...