Canonical Allele Identifier: CA1139667210

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 978857
• ClinVar RCV Id: RCV001257627 ; RCV001260490 ; RCV002473247
• dbSNP Id: rs2083293616

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721898_50721899del , CM000684.2:g.50721898_50721899del	GRCh38
NC_000022.10:g.51160326_51160327del , CM000684.1:g.51160326_51160327del	GRCh37
NC_000022.9:g.49507192_49507193del	NCBI36
NG_008607.2:g.52544_52545del
NG_070230.1:g.57682_57683del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3666_3667del	ENSP00000489147.2:p.Val1224GlyfsTer4
ENST00000414786.7:n.4250_4251del
ENST00000445220.7:c.2718_2719del	ENSP00000489407.2:p.Val908GlyfsTer4
ENST00000664402.2:c.2208_2209del	ENSP00000499475.1:p.Val738GlyfsTer4
ENST00000673971.2:c.*2664_*2665del	ENSP00000501192.1:n.*2664_*2665del
ENST00000445220.6:c.2718_2719del	ENSP00000489407.2:p.Val908GlyfsTer4
ENST00000262795.6:c.3666_3667del	ENSP00000489147.2:p.Val1224GlyfsTer4
ENST00000664402.1:c.2208_2209del	ENSP00000499475.1:p.Val738GlyfsTer4
ENST00000673971.1:c.*2664_*2665del	ENSP00000501192.1:n.*2664_*2665del
ENST00000262795.5:c.4062_4063del	ENSP00000489147.1:p.Val1356GlyfsTer4
ENST00000414786.6:n.4250_4251del
ENST00000445220.5:c.4044_4045del	ENSP00000489407.1:p.Val1350GlyfsTer4