Canonical Allele Identifier: CA640359011
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1428856771

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697580_50697581insTGGCGGGAGCGGG , CM000684.2:g.50697580_50697581insTGGCGGGAGCGGG GRCh38
NC_000022.10:g.51136008_51136009insTGGCGGGAGCGGG , CM000684.1:g.51136008_51136009insTGGCGGGAGCGGG GRCh37
NC_000022.9:g.49482874_49482875insTGGCGGGAGCGGG NCBI36
NG_008607.2:g.28226_28227insTGGCGGGAGCGGG
NG_070230.1:g.33445_33446insTGGCGGGAGCGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.964_965insTGGCGGGAGCGGG ENSP00000489147.2:p.Pro322LeufsTer?
ENST00000414786.7:n.1548_1549insTGGCGGGAGCGGG
ENST00000445220.7:c.16_17insTGGCGGGAGCGGG ENSP00000489407.2:p.Pro6LeufsTer?
ENST00000673971.2:c.1321_1322insTGGCGGGAGCGGG ENSP00000501192.1:p.Pro441LeufsTer?
ENST00000445220.6:c.16_17insTGGCGGGAGCGGG ENSP00000489407.2:p.Pro6LeufsTer?
ENST00000262795.6:c.964_965insTGGCGGGAGCGGG ENSP00000489147.2:p.Pro322LeufsTer?
ENST00000673971.1:c.1321_1322insTGGCGGGAGCGGG ENSP00000501192.1:p.Pro441LeufsTer?
ENST00000673995.1:c.17_18insTGGCGGGAGCGGG
ENST00000262795.5:c.1360_1361insTGGCGGGAGCGGG ENSP00000489147.1:p.Pro454LeufsTer?
ENST00000414786.6:n.1548_1549insTGGCGGGAGCGGG
ENST00000445220.5:c.1342_1343insTGGCGGGAGCGGG ENSP00000489407.1:p.Pro448LeufsTer?