Canonical Allele Identifier: CA2657598472

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697567-C-CGGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697568_50697569insGCCCTG , CM000684.2:g.50697568_50697569insGCCCTG	GRCh38
NC_000022.10:g.51135996_51135997insGCCCTG , CM000684.1:g.51135996_51135997insGCCCTG	GRCh37
NC_000022.9:g.49482862_49482863insGCCCTG	NCBI36
NG_008607.2:g.28214_28215insGCCCTG
NG_070230.1:g.33433_33434insGCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.952_953insGCCCTG	ENSP00000489147.2:p.Pro317_Ala318insGlyPro
ENST00000414786.7:n.1536_1537insGCCCTG
ENST00000445220.7:c.4_5insGCCCTG	ENSP00000489407.2:p.Pro1_Ala2insGlyPro
ENST00000673971.2:c.1309_1310insGCCCTG	ENSP00000501192.1:p.Pro436_Ala437insGlyPro
ENST00000445220.6:c.4_5insGCCCTG	ENSP00000489407.2:p.Pro1_Ala2insGlyPro
ENST00000262795.6:c.952_953insGCCCTG	ENSP00000489147.2:p.Pro317_Ala318insGlyPro
ENST00000673971.1:c.1309_1310insGCCCTG	ENSP00000501192.1:p.Pro436_Ala437insGlyPro
ENST00000673995.1:c.5_6insGCCCTG
ENST00000262795.5:c.1348_1349insGCCCTG	ENSP00000489147.1:p.Pro449_Ala450insGlyPro
ENST00000414786.6:n.1536_1537insGCCCTG
ENST00000445220.5:c.1330_1331insGCCCTG	ENSP00000489407.1:p.Pro443_Ala444insGlyPro