Canonical Allele Identifier: CA2657598633

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697586-GCACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697587_50697590del , CM000684.2:g.50697587_50697590del	GRCh38
NC_000022.10:g.51136015_51136018del , CM000684.1:g.51136015_51136018del	GRCh37
NC_000022.9:g.49482881_49482884del	NCBI36
NG_008607.2:g.28233_28236del
NG_070230.1:g.33452_33455del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.971_974del	ENSP00000489147.2:p.Ala324GlyfsTer22
ENST00000414786.7:n.1555_1558del
ENST00000445220.7:c.23_26del	ENSP00000489407.2:p.Ala8GlyfsTer22
ENST00000673971.2:c.1328_1331del	ENSP00000501192.1:p.Ala443GlyfsTer22
ENST00000445220.6:c.23_26del	ENSP00000489407.2:p.Ala8GlyfsTer22
ENST00000262795.6:c.971_974del	ENSP00000489147.2:p.Ala324GlyfsTer22
ENST00000673971.1:c.1328_1331del	ENSP00000501192.1:p.Ala443GlyfsTer22
ENST00000673995.1:c.24_27del
ENST00000262795.5:c.1367_1370del	ENSP00000489147.1:p.Ala456GlyfsTer22
ENST00000414786.6:n.1555_1558del
ENST00000445220.5:c.1349_1352del	ENSP00000489407.1:p.Ala450GlyfsTer22