Canonical Allele Identifier: CA754138582

Gene: SHANK3

Linked Data

• dbSNP Id: rs1438101740
• gnomAD v3: 22-50697581-C-CGGGAGCGGG
• gnomAD v4: 22-50697581-C-CGGGAGCGGG
• MyVariant Identifiers: chr22:g.51136009_51136010insGGGAGCGGG (hg19) ; chr22:g.50697581_50697582insGGGAGCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697581_50697582insGGGAGCGGG , CM000684.2:g.50697581_50697582insGGGAGCGGG	GRCh38
NC_000022.10:g.51136009_51136010insGGGAGCGGG , CM000684.1:g.51136009_51136010insGGGAGCGGG	GRCh37
NC_000022.9:g.49482875_49482876insGGGAGCGGG	NCBI36
NG_008607.2:g.28227_28228insGGGAGCGGG
NG_070230.1:g.33446_33447insGGGAGCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.965_966insGGGAGCGGG	ENSP00000489147.2:p.Pro322_Pro323insGlyAlaGly
ENST00000414786.7:n.1549_1550insGGGAGCGGG
ENST00000445220.7:c.17_18insGGGAGCGGG	ENSP00000489407.2:p.Pro6_Pro7insGlyAlaGly
ENST00000673971.2:c.1322_1323insGGGAGCGGG	ENSP00000501192.1:p.Pro441_Pro442insGlyAlaGly
ENST00000445220.6:c.17_18insGGGAGCGGG	ENSP00000489407.2:p.Pro6_Pro7insGlyAlaGly
ENST00000262795.6:c.965_966insGGGAGCGGG	ENSP00000489147.2:p.Pro322_Pro323insGlyAlaGly
ENST00000673971.1:c.1322_1323insGGGAGCGGG	ENSP00000501192.1:p.Pro441_Pro442insGlyAlaGly
ENST00000673995.1:c.18_19insGGGAGCGGG
ENST00000262795.5:c.1361_1362insGGGAGCGGG	ENSP00000489147.1:p.Pro454_Pro455insGlyAlaGly
ENST00000414786.6:n.1549_1550insGGGAGCGGG
ENST00000445220.5:c.1343_1344insGGGAGCGGG	ENSP00000489407.1:p.Pro448_Pro449insGlyAlaGly