Canonical Allele Identifier: CA2657583361

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720604-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720605del , CM000684.2:g.50720605del	GRCh38
NC_000022.10:g.51159033del , CM000684.1:g.51159033del	GRCh37
NC_000022.9:g.49505899del	NCBI36
NG_008607.2:g.51251del
NG_070230.1:g.56389del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2373del	ENSP00000489147.2:p.Gly793AlafsTer?
ENST00000414786.7:n.2957del
ENST00000445220.7:c.1425del	ENSP00000489407.2:p.Gly477AlafsTer?
ENST00000664402.2:c.915del	ENSP00000499475.1:p.Gly307AlafsTer?
ENST00000673971.2:c.*1371del	ENSP00000501192.1:n.*1371del
ENST00000445220.6:c.1425del	ENSP00000489407.2:p.Gly477AlafsTer?
ENST00000262795.6:c.2373del	ENSP00000489147.2:p.Gly793AlafsTer?
ENST00000664402.1:c.915del	ENSP00000499475.1:p.Gly307AlafsTer?
ENST00000673971.1:c.*1371del	ENSP00000501192.1:n.*1371del
ENST00000262795.5:c.2769del	ENSP00000489147.1:p.Gly925AlafsTer?
ENST00000414786.6:n.2957del
ENST00000445220.5:c.2751del	ENSP00000489407.1:p.Gly919AlafsTer?