Canonical Allele Identifier: CA2580100017

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 2499587
• ClinVar RCV Id: RCV003223516

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721949del , CM000684.2:g.50721949del	GRCh38
NC_000022.10:g.51160377del , CM000684.1:g.51160377del	GRCh37
NC_000022.9:g.49507243del	NCBI36
NG_008607.2:g.52595del
NG_070230.1:g.57733del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.3717del	ENSP00000489147.2:p.Thr1240GlnfsTer13
ENST00000414786.7:n.4301del
ENST00000445220.7:c.2769del	ENSP00000489407.2:p.Thr924GlnfsTer13
ENST00000664402.2:c.2259del	ENSP00000499475.1:p.Thr754GlnfsTer13
ENST00000673971.2:c.*2715del	ENSP00000501192.1:n.*2715del
ENST00000445220.6:c.2769del	ENSP00000489407.2:p.Thr924GlnfsTer13
ENST00000262795.6:c.3717del	ENSP00000489147.2:p.Thr1240GlnfsTer13
ENST00000664402.1:c.2259del	ENSP00000499475.1:p.Thr754GlnfsTer13
ENST00000673971.1:c.*2715del	ENSP00000501192.1:n.*2715del
ENST00000262795.5:c.4113del	ENSP00000489147.1:p.Thr1372GlnfsTer13
ENST00000414786.6:n.4301del
ENST00000445220.5:c.4095del	ENSP00000489407.1:p.Thr1366GlnfsTer13