Canonical Allele Identifier: CA2657583359

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50720584-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720587del , CM000684.2:g.50720587del	GRCh38
NC_000022.10:g.51159015del , CM000684.1:g.51159015del	GRCh37
NC_000022.9:g.49505881del	NCBI36
NG_008607.2:g.51233del
NG_070230.1:g.56371del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2355del	ENSP00000489147.2:p.Lys786SerfsTer?
ENST00000414786.7:n.2939del
ENST00000445220.7:c.1407del	ENSP00000489407.2:p.Lys470SerfsTer?
ENST00000664402.2:c.897del	ENSP00000499475.1:p.Lys300SerfsTer?
ENST00000673971.2:c.*1353del	ENSP00000501192.1:n.*1353del
ENST00000445220.6:c.1407del	ENSP00000489407.2:p.Lys470SerfsTer?
ENST00000262795.6:c.2355del	ENSP00000489147.2:p.Lys786SerfsTer?
ENST00000664402.1:c.897del	ENSP00000499475.1:p.Lys300SerfsTer?
ENST00000673971.1:c.*1353del	ENSP00000501192.1:n.*1353del
ENST00000262795.5:c.2751del	ENSP00000489147.1:p.Lys918SerfsTer?
ENST00000414786.6:n.2939del
ENST00000445220.5:c.2733del	ENSP00000489407.1:p.Lys912SerfsTer?