Canonical Allele Identifier: CA2657583393

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720718-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720719del , CM000684.2:g.50720719del	GRCh38
NC_000022.10:g.51159147del , CM000684.1:g.51159147del	GRCh37
NC_000022.9:g.49506013del	NCBI36
NG_008607.2:g.51365del
NG_070230.1:g.56503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2487del	ENSP00000489147.2:p.Asp829GlufsTer?
ENST00000414786.7:n.3071del
ENST00000445220.7:c.1539del	ENSP00000489407.2:p.Asp513GlufsTer?
ENST00000664402.2:c.1029del	ENSP00000499475.1:p.Asp343GlufsTer?
ENST00000673971.2:c.*1485del	ENSP00000501192.1:n.*1485del
ENST00000445220.6:c.1539del	ENSP00000489407.2:p.Asp513GlufsTer?
ENST00000262795.6:c.2487del	ENSP00000489147.2:p.Asp829GlufsTer?
ENST00000664402.1:c.1029del	ENSP00000499475.1:p.Asp343GlufsTer?
ENST00000673971.1:c.*1485del	ENSP00000501192.1:n.*1485del
ENST00000262795.5:c.2883del	ENSP00000489147.1:p.Asp961GlufsTer?
ENST00000414786.6:n.3071del
ENST00000445220.5:c.2865del	ENSP00000489407.1:p.Asp955GlufsTer?