Canonical Allele Identifier: CA2657583037

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720360-CCGCCGGGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720365_50720374del , CM000684.2:g.50720365_50720374del	GRCh38
NC_000022.10:g.51158793_51158802del , CM000684.1:g.51158793_51158802del	GRCh37
NC_000022.9:g.49505659_49505668del	NCBI36
NG_008607.2:g.51011_51020del
NG_070230.1:g.56149_56158del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2133_2142del	ENSP00000489147.2:p.Gly712ThrfsTer?
ENST00000414786.7:n.2717_2726del
ENST00000445220.7:c.1185_1194del	ENSP00000489407.2:p.Gly396ThrfsTer?
ENST00000664402.2:c.675_684del	ENSP00000499475.1:p.Gly226ThrfsTer?
ENST00000673971.2:c.*1131_*1140del	ENSP00000501192.1:n.*1131_*1140del
ENST00000445220.6:c.1185_1194del	ENSP00000489407.2:p.Gly396ThrfsTer?
ENST00000262795.6:c.2133_2142del	ENSP00000489147.2:p.Gly712ThrfsTer?
ENST00000664402.1:c.675_684del	ENSP00000499475.1:p.Gly226ThrfsTer?
ENST00000673971.1:c.*1131_*1140del	ENSP00000501192.1:n.*1131_*1140del
ENST00000262795.5:c.2529_2538del	ENSP00000489147.1:p.Gly844ThrfsTer?
ENST00000414786.6:n.2717_2726del
ENST00000445220.5:c.2511_2520del	ENSP00000489407.1:p.Gly838ThrfsTer?