Canonical Allele Identifier: CA1026687507
Gene: SHANK3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697557_50697558insCGGGCGCGGCGGCACGGCCCA , CM000684.2:g.50697557_50697558insCGGGCGCGGCGGCACGGCCCA GRCh38
NC_000022.10:g.51135985_51135986insCGGGCGCGGCGGCACGGCCCA , CM000684.1:g.51135985_51135986insCGGGCGCGGCGGCACGGCCCA GRCh37
NC_000022.9:g.49482851_49482852insCGGGCGCGGCGGCACGGCCCA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.948-7_948-6insCGGGCGCGGCGGCACGGCCCA ENSP00000489147.2:n.948-7_948-6insCGGGCGCGGCGGCACGGCCCA
ENST00000414786.7:n.1532-7_1532-6insCGGGCGCGGCGGCACGGCCCA
ENST00000673971.2:c.1305-7_1305-6insCGGGCGCGGCGGCACGGCCCA ENSP00000501192.1:n.1305-7_1305-6insCGGGCGCGGCGGCACGGCCCA
ENST00000262795.6:c.948-7_948-6insCGGGCGCGGCGGCACGGCCCA ENSP00000489147.2:n.948-7_948-6insCGGGCGCGGCGGCACGGCCCA
ENST00000673971.1:c.1305-7_1305-6insCGGGCGCGGCGGCACGGCCCA ENSP00000501192.1:n.1305-7_1305-6insCGGGCGCGGCGGCACGGCCCA
ENST00000262795.5:c.1345-8_1345-7insCGGGCGCGGCGGCACGGCCCA ENSP00000489147.1:n.1345-8_1345-7insCGGGCGCGGCGGCACGGCCCA
ENST00000414786.6:n.1532-7_1532-6insCGGGCGCGGCGGCACGGCCCA
ENST00000445220.5:c.1326-7_1326-6insCGGGCGCGGCGGCACGGCCCA ENSP00000489407.1:n.1326-7_1326-6insCGGGCGCGGCGGCACGGCCCA