Canonical Allele Identifier: CA2819325421

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697524_50697525insCCGGCT , CM000684.2:g.50697524_50697525insCCGGCT	GRCh38
NC_000022.10:g.51135952_51135953insCCGGCT , CM000684.1:g.51135952_51135953insCCGGCT	GRCh37
NC_000022.9:g.49482818_49482819insCCGGCT	NCBI36
NG_008607.2:g.27883_27884insCCGGCT
NG_070230.1:g.33102_33103insCCGGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-40_948-39insCCGGCT	ENSP00000489147.2:n.948-40_948-39insCCGGCT
ENST00000414786.7:n.1532-40_1532-39insCCGGCT
ENST00000673971.2:c.1305-40_1305-39insCCGGCT	ENSP00000501192.1:n.1305-40_1305-39insCCGGCT
ENST00000262795.6:c.948-40_948-39insCCGGCT	ENSP00000489147.2:n.948-40_948-39insCCGGCT
ENST00000673971.1:c.1305-40_1305-39insCCGGCT	ENSP00000501192.1:n.1305-40_1305-39insCCGGCT
ENST00000262795.5:c.1345-41_1345-40insCCGGCT	ENSP00000489147.1:n.1345-41_1345-40insCCGGCT
ENST00000414786.6:n.1532-40_1532-39insCCGGCT
ENST00000445220.5:c.1326-40_1326-39insCCGGCT	ENSP00000489407.1:n.1326-40_1326-39insCCGGCT