Canonical Allele Identifier: CA2657583401

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720763-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720764del , CM000684.2:g.50720764del	GRCh38
NC_000022.10:g.51159192del , CM000684.1:g.51159192del	GRCh37
NC_000022.9:g.49506058del	NCBI36
NG_008607.2:g.51410del
NG_070230.1:g.56548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2532del	ENSP00000489147.2:p.Gly845AlafsTer?
ENST00000414786.7:n.3116del
ENST00000445220.7:c.1584del	ENSP00000489407.2:p.Gly529AlafsTer?
ENST00000664402.2:c.1074del	ENSP00000499475.1:p.Gly359AlafsTer?
ENST00000673971.2:c.*1530del	ENSP00000501192.1:n.*1530del
ENST00000445220.6:c.1584del	ENSP00000489407.2:p.Gly529AlafsTer?
ENST00000262795.6:c.2532del	ENSP00000489147.2:p.Gly845AlafsTer?
ENST00000664402.1:c.1074del	ENSP00000499475.1:p.Gly359AlafsTer?
ENST00000673971.1:c.*1530del	ENSP00000501192.1:n.*1530del
ENST00000262795.5:c.2928del	ENSP00000489147.1:p.Gly977AlafsTer?
ENST00000414786.6:n.3116del
ENST00000445220.5:c.2910del	ENSP00000489407.1:p.Gly971AlafsTer?