Canonical Allele Identifier: CA2657598696

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697598-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697598_50697599insT , CM000684.2:g.50697598_50697599insT	GRCh38
NC_000022.10:g.51136026_51136027insT , CM000684.1:g.51136026_51136027insT	GRCh37
NC_000022.9:g.49482892_49482893insT	NCBI36
NG_008607.2:g.28244_28245insT
NG_070230.1:g.33463_33464insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.982_983insT	ENSP00000489147.2:p.Arg328LeufsTer27
ENST00000414786.7:n.1566_1567insT
ENST00000445220.7:c.34_35insT	ENSP00000489407.2:p.Arg12LeufsTer27
ENST00000673971.2:c.1339_1340insT	ENSP00000501192.1:p.Arg447LeufsTer27
ENST00000445220.6:c.34_35insT	ENSP00000489407.2:p.Arg12LeufsTer27
ENST00000262795.6:c.982_983insT	ENSP00000489147.2:p.Arg328LeufsTer27
ENST00000673971.1:c.1339_1340insT	ENSP00000501192.1:p.Arg447LeufsTer27
ENST00000673995.1:c.35_36insT
ENST00000262795.5:c.1378_1379insT	ENSP00000489147.1:p.Arg460LeufsTer27
ENST00000414786.6:n.1566_1567insT
ENST00000445220.5:c.1360_1361insT	ENSP00000489407.1:p.Arg454LeufsTer27