Canonical Allele Identifier: CA2657583382

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720688-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720693dup , CM000684.2:g.50720693dup	GRCh38
NC_000022.10:g.51159121dup , CM000684.1:g.51159121dup	GRCh37
NC_000022.9:g.49505987dup	NCBI36
NG_008607.2:g.51339dup
NG_070230.1:g.56477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2461dup	ENSP00000489147.2:p.Leu821ProfsTer?
ENST00000414786.7:n.3045dup
ENST00000445220.7:c.1513dup	ENSP00000489407.2:p.Leu505ProfsTer?
ENST00000664402.2:c.1003dup	ENSP00000499475.1:p.Leu335ProfsTer?
ENST00000673971.2:c.*1459dup	ENSP00000501192.1:n.*1459dup
ENST00000445220.6:c.1513dup	ENSP00000489407.2:p.Leu505ProfsTer?
ENST00000262795.6:c.2461dup	ENSP00000489147.2:p.Leu821ProfsTer?
ENST00000664402.1:c.1003dup	ENSP00000499475.1:p.Leu335ProfsTer?
ENST00000673971.1:c.*1459dup	ENSP00000501192.1:n.*1459dup
ENST00000262795.5:c.2857dup	ENSP00000489147.1:p.Leu953ProfsTer?
ENST00000414786.6:n.3045dup
ENST00000445220.5:c.2839dup	ENSP00000489407.1:p.Leu947ProfsTer?