Canonical Allele Identifier: CA2657581347

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721794-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721798del , CM000684.2:g.50721798del	GRCh38
NC_000022.10:g.51160226del , CM000684.1:g.51160226del	GRCh37
NC_000022.9:g.49507092del	NCBI36
NG_008607.2:g.52444del
NG_070230.1:g.57582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3566del	ENSP00000489147.2:p.Pro1189HisfsTer?
ENST00000414786.7:n.4150del
ENST00000445220.7:c.2618del	ENSP00000489407.2:p.Pro873HisfsTer?
ENST00000664402.2:c.2108del	ENSP00000499475.1:p.Pro703HisfsTer?
ENST00000673971.2:c.*2564del	ENSP00000501192.1:n.*2564del
ENST00000445220.6:c.2618del	ENSP00000489407.2:p.Pro873HisfsTer?
ENST00000262795.6:c.3566del	ENSP00000489147.2:p.Pro1189HisfsTer?
ENST00000664402.1:c.2108del	ENSP00000499475.1:p.Pro703HisfsTer?
ENST00000673971.1:c.*2564del	ENSP00000501192.1:n.*2564del
ENST00000262795.5:c.3962del	ENSP00000489147.1:p.Pro1321HisfsTer?
ENST00000414786.6:n.4150del
ENST00000445220.5:c.3944del	ENSP00000489407.1:p.Pro1315HisfsTer?