Canonical Allele Identifier: CA640359007

Gene: SHANK3

Linked Data

• dbSNP Id: rs2083090056
• gnomAD v2: 22-51135991-T-TCCCCGG
• gnomAD v3: 22-50697563-T-TCCCCGG
• gnomAD v4: 22-50697563-T-TCCCCGG
• MyVariant Identifiers: chr22:g.51135991_51135992insCCCCGG (hg19) ; chr22:g.50697563_50697564insCCCCGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697568_50697569insGCCCCG , CM000684.2:g.50697568_50697569insGCCCCG	GRCh38
NC_000022.10:g.51135996_51135997insGCCCCG , CM000684.1:g.51135996_51135997insGCCCCG	GRCh37
NC_000022.9:g.49482862_49482863insGCCCCG	NCBI36
NG_008607.2:g.28214_28215insGCCCCG
NG_070230.1:g.33433_33434insGCCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.952_953insGCCCCG	ENSP00000489147.2:p.Pro317_Ala318insGlyPro
ENST00000414786.7:n.1536_1537insGCCCCG
ENST00000673971.2:c.1309_1310insGCCCCG	ENSP00000501192.1:p.Pro436_Ala437insGlyPro
ENST00000262795.6:c.952_953insGCCCCG	ENSP00000489147.2:p.Pro317_Ala318insGlyPro
ENST00000673971.1:c.1309_1310insGCCCCG	ENSP00000501192.1:p.Pro436_Ala437insGlyPro
ENST00000673995.1:c.5_6insGCCCCG
ENST00000262795.5:c.1348_1349insGCCCCG
ENST00000414786.6:n.1536_1537insGCCCCG
ENST00000445220.5:c.1330_1331insGCCCCG	ENSP00000489407.1:p.Pro443_Ala444insGlyPro