Canonical Allele Identifier: CA640359027
Gene: SHANK3 HGNC NCBI

Linked Data

dbSNP Id: rs1455964219

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50697656del , CM000684.2:g.50697656del GRCh38
NC_000022.10:g.51136084del , CM000684.1:g.51136084del GRCh37
NC_000022.9:g.49482950del NCBI36
NG_008607.2:g.28302del
NG_070230.1:g.33521del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262795.7:c.1040del ENSP00000489147.2:p.Lys347ArgfsTer19
ENST00000414786.7:n.1624del
ENST00000445220.7:c.92del ENSP00000489407.2:p.Lys31ArgfsTer19
ENST00000673971.2:c.1397del ENSP00000501192.1:p.Lys466ArgfsTer19
ENST00000445220.6:c.92del ENSP00000489407.2:p.Lys31ArgfsTer19
ENST00000262795.6:c.1040del ENSP00000489147.2:p.Lys347ArgfsTer19
ENST00000673971.1:c.1397del ENSP00000501192.1:p.Lys466ArgfsTer19
ENST00000673995.1:c.93del
ENST00000262795.5:c.1436del ENSP00000489147.1:p.Lys479ArgfsTer19
ENST00000414786.6:n.1624del
ENST00000445220.5:c.1418del ENSP00000489407.1:p.Lys473ArgfsTer19