Canonical Allele Identifier: CA1026687592

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697563-T-TCCGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG
• gnomAD v4: 22-50697563-T-TCCGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697565_50697566insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC , CM000684.2:g.50697565_50697566insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	GRCh38
NC_000022.10:g.51135993_51135994insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC , CM000684.1:g.51135993_51135994insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	GRCh37
NC_000022.9:g.49482859_49482860insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	NCBI36
NG_008607.2:g.28211_28212insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC
NG_070230.1:g.33430_33431insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.949_950insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	ENSP00000489147.2:p.Pro317ArgfsTer45
ENST00000414786.7:n.1533_1534insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC
ENST00000673971.2:c.1306_1307insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	ENSP00000501192.1:p.Pro436ArgfsTer45
ENST00000262795.6:c.949_950insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	ENSP00000489147.2:p.Pro317ArgfsTer45
ENST00000673971.1:c.1306_1307insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	ENSP00000501192.1:p.Pro436ArgfsTer45
ENST00000673995.1:c.2_3insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC
ENST00000262795.5:c.1345_1346insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC
ENST00000414786.6:n.1533_1534insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC
ENST00000445220.5:c.1327_1328insGGGCCGGGCCCCCGGCGGCCCCGGCCCCGCGCCCGGCCCCGGCC	ENSP00000489407.1:p.Pro443ArgfsTer45