Canonical Allele Identifier: CA2657583365

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720610-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720614del , CM000684.2:g.50720614del	GRCh38
NC_000022.10:g.51159042del , CM000684.1:g.51159042del	GRCh37
NC_000022.9:g.49505908del	NCBI36
NG_008607.2:g.51260del
NG_070230.1:g.56398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2382del	ENSP00000489147.2:p.Asp795ThrfsTer28
ENST00000414786.7:n.2966del
ENST00000445220.7:c.1434del	ENSP00000489407.2:p.Asp479ThrfsTer28
ENST00000664402.2:c.924del	ENSP00000499475.1:p.Asp309ThrfsTer28
ENST00000673971.2:c.*1380del	ENSP00000501192.1:n.*1380del
ENST00000445220.6:c.1434del	ENSP00000489407.2:p.Asp479ThrfsTer28
ENST00000262795.6:c.2382del	ENSP00000489147.2:p.Asp795ThrfsTer28
ENST00000664402.1:c.924del	ENSP00000499475.1:p.Asp309ThrfsTer28
ENST00000673971.1:c.*1380del	ENSP00000501192.1:n.*1380del
ENST00000262795.5:c.2778del	ENSP00000489147.1:p.Asp927ThrfsTer28
ENST00000414786.6:n.2966del
ENST00000445220.5:c.2760del	ENSP00000489407.1:p.Asp921ThrfsTer28