Canonical Allele Identifier: CA2657583141

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720427-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720430del , CM000684.2:g.50720430del	GRCh38
NC_000022.10:g.51158858del , CM000684.1:g.51158858del	GRCh37
NC_000022.9:g.49505724del	NCBI36
NG_008607.2:g.51076del
NG_070230.1:g.56214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2198del	ENSP00000489147.2:p.Gly733AlafsTer27
ENST00000414786.7:n.2782del
ENST00000445220.7:c.1250del	ENSP00000489407.2:p.Gly417AlafsTer27
ENST00000664402.2:c.740del	ENSP00000499475.1:p.Gly247AlafsTer27
ENST00000673971.2:c.*1196del	ENSP00000501192.1:n.*1196del
ENST00000445220.6:c.1250del	ENSP00000489407.2:p.Gly417AlafsTer27
ENST00000262795.6:c.2198del	ENSP00000489147.2:p.Gly733AlafsTer27
ENST00000664402.1:c.740del	ENSP00000499475.1:p.Gly247AlafsTer27
ENST00000673971.1:c.*1196del	ENSP00000501192.1:n.*1196del
ENST00000262795.5:c.2594del	ENSP00000489147.1:p.Gly865AlafsTer27
ENST00000414786.6:n.2782del
ENST00000445220.5:c.2576del	ENSP00000489407.1:p.Gly859AlafsTer27