Canonical Allele Identifier: CA2657581377

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721888-C-CGGTGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721888_50721889insGGTGG , CM000684.2:g.50721888_50721889insGGTGG	GRCh38
NC_000022.10:g.51160316_51160317insGGTGG , CM000684.1:g.51160316_51160317insGGTGG	GRCh37
NC_000022.9:g.49507182_49507183insGGTGG	NCBI36
NG_008607.2:g.52534_52535insGGTGG
NG_070230.1:g.57672_57673insGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3656_3657insGGTGG	ENSP00000489147.2:p.Ala1220ValfsTer?
ENST00000414786.7:n.4240_4241insGGTGG
ENST00000445220.7:c.2708_2709insGGTGG	ENSP00000489407.2:p.Ala904ValfsTer?
ENST00000664402.2:c.2198_2199insGGTGG	ENSP00000499475.1:p.Ala734ValfsTer?
ENST00000673971.2:c.*2654_*2655insGGTGG	ENSP00000501192.1:n.*2654_*2655insGGTGG
ENST00000445220.6:c.2708_2709insGGTGG	ENSP00000489407.2:p.Ala904ValfsTer?
ENST00000262795.6:c.3656_3657insGGTGG	ENSP00000489147.2:p.Ala1220ValfsTer?
ENST00000664402.1:c.2198_2199insGGTGG	ENSP00000499475.1:p.Ala734ValfsTer?
ENST00000673971.1:c.*2654_*2655insGGTGG	ENSP00000501192.1:n.*2654_*2655insGGTGG
ENST00000262795.5:c.4052_4053insGGTGG	ENSP00000489147.1:p.Ala1352ValfsTer?
ENST00000414786.6:n.4240_4241insGGTGG
ENST00000445220.5:c.4034_4035insGGTGG	ENSP00000489407.1:p.Ala1346ValfsTer?