Canonical Allele Identifier: CA1026687638

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697572-CCCCTGCGCCCCCCGCA-C
• gnomAD v4: 22-50697572-CCCCTGCGCCCCCCGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697575_50697590del , CM000684.2:g.50697575_50697590del	GRCh38
NC_000022.10:g.51136003_51136018del , CM000684.1:g.51136003_51136018del	GRCh37
NC_000022.9:g.49482869_49482884del	NCBI36
NG_008607.2:g.28221_28236del
NG_070230.1:g.33440_33455del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.959_974del	ENSP00000489147.2:p.Pro320ArgfsTer22
ENST00000414786.7:n.1543_1558del
ENST00000445220.7:c.11_26del	ENSP00000489407.2:p.Pro4ArgfsTer22
ENST00000673971.2:c.1316_1331del	ENSP00000501192.1:p.Pro439ArgfsTer22
ENST00000445220.6:c.11_26del	ENSP00000489407.2:p.Pro4ArgfsTer22
ENST00000262795.6:c.959_974del	ENSP00000489147.2:p.Pro320ArgfsTer22
ENST00000673971.1:c.1316_1331del	ENSP00000501192.1:p.Pro439ArgfsTer22
ENST00000673995.1:c.12_27del
ENST00000262795.5:c.1355_1370del	ENSP00000489147.1:p.Pro452ArgfsTer22
ENST00000414786.6:n.1543_1558del
ENST00000445220.5:c.1337_1352del	ENSP00000489407.1:p.Pro446ArgfsTer22