Canonical Allele Identifier: CA2657598547

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697574-C-CGGAGCCCTGAGCGGGCGCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697574_50697575insGGAGCCCTGAGCGGGCGCGG , CM000684.2:g.50697574_50697575insGGAGCCCTGAGCGGGCGCGG	GRCh38
NC_000022.10:g.51136002_51136003insGGAGCCCTGAGCGGGCGCGG , CM000684.1:g.51136002_51136003insGGAGCCCTGAGCGGGCGCGG	GRCh37
NC_000022.9:g.49482868_49482869insGGAGCCCTGAGCGGGCGCGG	NCBI36
NG_008607.2:g.28220_28221insGGAGCCCTGAGCGGGCGCGG
NG_070230.1:g.33439_33440insGGAGCCCTGAGCGGGCGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.958_959insGGAGCCCTGAGCGGGCGCGG	ENSP00000489147.2:p.Pro320ArgfsTer34
ENST00000414786.7:n.1542_1543insGGAGCCCTGAGCGGGCGCGG
ENST00000445220.7:c.10_11insGGAGCCCTGAGCGGGCGCGG	ENSP00000489407.2:p.Pro4ArgfsTer34
ENST00000673971.2:c.1315_1316insGGAGCCCTGAGCGGGCGCGG	ENSP00000501192.1:p.Pro439ArgfsTer34
ENST00000445220.6:c.10_11insGGAGCCCTGAGCGGGCGCGG	ENSP00000489407.2:p.Pro4ArgfsTer34
ENST00000262795.6:c.958_959insGGAGCCCTGAGCGGGCGCGG	ENSP00000489147.2:p.Pro320ArgfsTer34
ENST00000673971.1:c.1315_1316insGGAGCCCTGAGCGGGCGCGG	ENSP00000501192.1:p.Pro439ArgfsTer34
ENST00000673995.1:c.11_12insGGAGCCCTGAGCGGGCGCGG
ENST00000262795.5:c.1354_1355insGGAGCCCTGAGCGGGCGCGG	ENSP00000489147.1:p.Pro452ArgfsTer34
ENST00000414786.6:n.1542_1543insGGAGCCCTGAGCGGGCGCGG
ENST00000445220.5:c.1336_1337insGGAGCCCTGAGCGGGCGCGG	ENSP00000489407.1:p.Pro446ArgfsTer34