Canonical Allele Identifier: CA10325518

Gene: SHANK3

Linked Data

• dbSNP Id: rs778875496
• ExAC: 22:51135991 T / TCCCCGCGCCCGGCCCCGG
• gnomAD v2: 22-51135991-T-TCCCCGCGCCCGGCCCCGG
• gnomAD v4: 22-50697563-T-TCCCCGCGCCCGGCCCCGG
• MyVariant Identifiers: chr22:g.51135991_51135992insCCCCGCGCCCGGCCCCGG (hg19) ; chr22:g.50697563_50697564insCCCCGCGCCCGGCCCCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697573_50697574insGGCCCCGGCCCCGCGCCC , CM000684.2:g.50697573_50697574insGGCCCCGGCCCCGCGCCC	GRCh38
NC_000022.10:g.51136001_51136002insGGCCCCGGCCCCGCGCCC , CM000684.1:g.51136001_51136002insGGCCCCGGCCCCGCGCCC	GRCh37
NC_000022.9:g.49482867_49482868insGGCCCCGGCCCCGCGCCC	NCBI36
NG_008607.2:g.28219_28220insGGCCCCGGCCCCGCGCCC
NG_070230.1:g.33438_33439insGGCCCCGGCCCCGCGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.957_958insGGCCCCGGCCCCGCGCCC	ENSP00000489147.2:p.Pro319_Pro320insGlyProGlyProAlaPro
ENST00000414786.7:n.1541_1542insGGCCCCGGCCCCGCGCCC
ENST00000673971.2:c.1314_1315insGGCCCCGGCCCCGCGCCC	ENSP00000501192.1:p.Pro438_Pro439insGlyProGlyProAlaPro
ENST00000262795.6:c.957_958insGGCCCCGGCCCCGCGCCC	ENSP00000489147.2:p.Pro319_Pro320insGlyProGlyProAlaPro
ENST00000673971.1:c.1314_1315insGGCCCCGGCCCCGCGCCC	ENSP00000501192.1:p.Pro438_Pro439insGlyProGlyProAlaPro
ENST00000673995.1:c.10_11insGGCCCCGGCCCCGCGCCC
ENST00000262795.5:c.1353_1354insGGCCCCGGCCCCGCGCCC
ENST00000414786.6:n.1541_1542insGGCCCCGGCCCCGCGCCC
ENST00000445220.5:c.1335_1336insGGCCCCGGCCCCGCGCCC	ENSP00000489407.1:p.Pro445_Pro446insGlyProGlyProAlaPro