Canonical Allele Identifier: CA640359017

Gene: SHANK3

Linked Data

• dbSNP Id: rs1360060253
• gnomAD v2: 22-51136017-C-CGTG
• gnomAD v3: 22-50697589-C-CGTG
• gnomAD v4: 22-50697589-C-CGTG
• MyVariant Identifiers: chr22:g.51136017_51136018insGTG (hg19) ; chr22:g.50697589_50697590insGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697589_50697590insGTG , CM000684.2:g.50697589_50697590insGTG	GRCh38
NC_000022.10:g.51136017_51136018insGTG , CM000684.1:g.51136017_51136018insGTG	GRCh37
NC_000022.9:g.49482883_49482884insGTG	NCBI36
NG_008607.2:g.28235_28236insGTG
NG_070230.1:g.33454_33455insGTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.973_974insGTG	ENSP00000489147.2:p.Pro325delinsArgAla
ENST00000414786.7:n.1557_1558insGTG
ENST00000445220.7:c.25_26insGTG	ENSP00000489407.2:p.Pro9delinsArgAla
ENST00000673971.2:c.1330_1331insGTG	ENSP00000501192.1:p.Pro444delinsArgAla
ENST00000445220.6:c.25_26insGTG	ENSP00000489407.2:p.Pro9delinsArgAla
ENST00000262795.6:c.973_974insGTG	ENSP00000489147.2:p.Pro325delinsArgAla
ENST00000673971.1:c.1330_1331insGTG	ENSP00000501192.1:p.Pro444delinsArgAla
ENST00000673995.1:c.26_27insGTG
ENST00000262795.5:c.1369_1370insGTG	ENSP00000489147.1:p.Pro457delinsArgAla
ENST00000414786.6:n.1557_1558insGTG
ENST00000445220.5:c.1351_1352insGTG	ENSP00000489407.1:p.Pro451delinsArgAla