Canonical Allele Identifier: CA2657583373

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720641-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720643del , CM000684.2:g.50720643del	GRCh38
NC_000022.10:g.51159071del , CM000684.1:g.51159071del	GRCh37
NC_000022.9:g.49505937del	NCBI36
NG_008607.2:g.51289del
NG_070230.1:g.56427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2411del	ENSP00000489147.2:p.Phe804SerfsTer19
ENST00000414786.7:n.2995del
ENST00000445220.7:c.1463del	ENSP00000489407.2:p.Phe488SerfsTer19
ENST00000664402.2:c.953del	ENSP00000499475.1:p.Phe318SerfsTer19
ENST00000673971.2:c.*1409del	ENSP00000501192.1:n.*1409del
ENST00000445220.6:c.1463del	ENSP00000489407.2:p.Phe488SerfsTer19
ENST00000262795.6:c.2411del	ENSP00000489147.2:p.Phe804SerfsTer19
ENST00000664402.1:c.953del	ENSP00000499475.1:p.Phe318SerfsTer19
ENST00000673971.1:c.*1409del	ENSP00000501192.1:n.*1409del
ENST00000262795.5:c.2807del	ENSP00000489147.1:p.Phe936SerfsTer19
ENST00000414786.6:n.2995del
ENST00000445220.5:c.2789del	ENSP00000489407.1:p.Phe930SerfsTer19