Canonical Allele Identifier: CA2657583404

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720777-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720780del , CM000684.2:g.50720780del	GRCh38
NC_000022.10:g.51159208del , CM000684.1:g.51159208del	GRCh37
NC_000022.9:g.49506074del	NCBI36
NG_008607.2:g.51426del
NG_070230.1:g.56564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2548del	ENSP00000489147.2:p.Arg850AlafsTer?
ENST00000414786.7:n.3132del
ENST00000445220.7:c.1600del	ENSP00000489407.2:p.Arg534AlafsTer?
ENST00000664402.2:c.1090del	ENSP00000499475.1:p.Arg364AlafsTer?
ENST00000673971.2:c.*1546del	ENSP00000501192.1:n.*1546del
ENST00000445220.6:c.1600del	ENSP00000489407.2:p.Arg534AlafsTer?
ENST00000262795.6:c.2548del	ENSP00000489147.2:p.Arg850AlafsTer?
ENST00000664402.1:c.1090del	ENSP00000499475.1:p.Arg364AlafsTer?
ENST00000673971.1:c.*1546del	ENSP00000501192.1:n.*1546del
ENST00000262795.5:c.2944del	ENSP00000489147.1:p.Arg982AlafsTer?
ENST00000414786.6:n.3132del
ENST00000445220.5:c.2926del	ENSP00000489407.1:p.Arg976AlafsTer?