Canonical Allele Identifier: CA2657583400

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720755-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720755_50720756insT , CM000684.2:g.50720755_50720756insT	GRCh38
NC_000022.10:g.51159183_51159184insT , CM000684.1:g.51159183_51159184insT	GRCh37
NC_000022.9:g.49506049_49506050insT	NCBI36
NG_008607.2:g.51401_51402insT
NG_070230.1:g.56539_56540insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2523_2524insT	ENSP00000489147.2:p.Gly842TrpfsTer?
ENST00000414786.7:n.3107_3108insT
ENST00000445220.7:c.1575_1576insT	ENSP00000489407.2:p.Gly526TrpfsTer?
ENST00000664402.2:c.1065_1066insT	ENSP00000499475.1:p.Gly356TrpfsTer?
ENST00000673971.2:c.*1521_*1522insT	ENSP00000501192.1:n.*1521_*1522insT
ENST00000445220.6:c.1575_1576insT	ENSP00000489407.2:p.Gly526TrpfsTer?
ENST00000262795.6:c.2523_2524insT	ENSP00000489147.2:p.Gly842TrpfsTer?
ENST00000664402.1:c.1065_1066insT	ENSP00000499475.1:p.Gly356TrpfsTer?
ENST00000673971.1:c.*1521_*1522insT	ENSP00000501192.1:n.*1521_*1522insT
ENST00000262795.5:c.2919_2920insT	ENSP00000489147.1:p.Gly974TrpfsTer?
ENST00000414786.6:n.3107_3108insT
ENST00000445220.5:c.2901_2902insT	ENSP00000489407.1:p.Gly968TrpfsTer?