Canonical Allele Identifier: CA2577768310

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697579-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697585del , CM000684.2:g.50697585del	GRCh38
NC_000022.10:g.51136013del , CM000684.1:g.51136013del	GRCh37
NC_000022.9:g.49482879del	NCBI36
NG_008607.2:g.28231del
NG_070230.1:g.33450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.969del	ENSP00000489147.2:p.Ala324HisfsTer23
ENST00000414786.7:n.1553del
ENST00000445220.7:c.21del	ENSP00000489407.2:p.Ala8HisfsTer23
ENST00000673971.2:c.1326del	ENSP00000501192.1:p.Ala443HisfsTer23
ENST00000445220.6:c.21del	ENSP00000489407.2:p.Ala8HisfsTer23
ENST00000262795.6:c.969del	ENSP00000489147.2:p.Ala324HisfsTer23
ENST00000673971.1:c.1326del	ENSP00000501192.1:p.Ala443HisfsTer23
ENST00000673995.1:c.22del
ENST00000262795.5:c.1365del	ENSP00000489147.1:p.Ala456HisfsTer23
ENST00000414786.6:n.1553del
ENST00000445220.5:c.1347del	ENSP00000489407.1:p.Ala450HisfsTer23