Canonical Allele Identifier: CA2657581370

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721868-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721873del , CM000684.2:g.50721873del	GRCh38
NC_000022.10:g.51160301del , CM000684.1:g.51160301del	GRCh37
NC_000022.9:g.49507167del	NCBI36
NG_008607.2:g.52519del
NG_070230.1:g.57657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3641del	ENSP00000489147.2:p.Pro1214LeufsTer?
ENST00000414786.7:n.4225del
ENST00000445220.7:c.2693del	ENSP00000489407.2:p.Pro898LeufsTer?
ENST00000664402.2:c.2183del	ENSP00000499475.1:p.Pro728LeufsTer?
ENST00000673971.2:c.*2639del	ENSP00000501192.1:n.*2639del
ENST00000445220.6:c.2693del	ENSP00000489407.2:p.Pro898LeufsTer?
ENST00000262795.6:c.3641del	ENSP00000489147.2:p.Pro1214LeufsTer?
ENST00000664402.1:c.2183del	ENSP00000499475.1:p.Pro728LeufsTer?
ENST00000673971.1:c.*2639del	ENSP00000501192.1:n.*2639del
ENST00000262795.5:c.4037del	ENSP00000489147.1:p.Pro1346LeufsTer?
ENST00000414786.6:n.4225del
ENST00000445220.5:c.4019del	ENSP00000489407.1:p.Pro1340LeufsTer?