Canonical Allele Identifier: CA2657583369

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720627-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720629del , CM000684.2:g.50720629del	GRCh38
NC_000022.10:g.51159057del , CM000684.1:g.51159057del	GRCh37
NC_000022.9:g.49505923del	NCBI36
NG_008607.2:g.51275del
NG_070230.1:g.56413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2397del	ENSP00000489147.2:p.Asn800ThrfsTer23
ENST00000414786.7:n.2981del
ENST00000445220.7:c.1449del	ENSP00000489407.2:p.Asn484ThrfsTer23
ENST00000664402.2:c.939del	ENSP00000499475.1:p.Asn314ThrfsTer23
ENST00000673971.2:c.*1395del	ENSP00000501192.1:n.*1395del
ENST00000445220.6:c.1449del	ENSP00000489407.2:p.Asn484ThrfsTer23
ENST00000262795.6:c.2397del	ENSP00000489147.2:p.Asn800ThrfsTer23
ENST00000664402.1:c.939del	ENSP00000499475.1:p.Asn314ThrfsTer23
ENST00000673971.1:c.*1395del	ENSP00000501192.1:n.*1395del
ENST00000262795.5:c.2793del	ENSP00000489147.1:p.Asn932ThrfsTer23
ENST00000414786.6:n.2981del
ENST00000445220.5:c.2775del	ENSP00000489407.1:p.Asn926ThrfsTer23