Canonical Allele Identifier: CA640359009

Gene: SHANK3

Linked Data

• dbSNP Id: rs1256407235
• gnomAD v2: 22-51135993-C-CGGG
• gnomAD v3: 22-50697565-C-CGGG
• gnomAD v4: 22-50697565-C-CGGG
• MyVariant Identifiers: chr22:g.51135993_51135994insGGG (hg19) ; chr22:g.50697565_50697566insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697565_50697566insGGG , CM000684.2:g.50697565_50697566insGGG	GRCh38
NC_000022.10:g.51135993_51135994insGGG , CM000684.1:g.51135993_51135994insGGG	GRCh37
NC_000022.9:g.49482859_49482860insGGG	NCBI36
NG_008607.2:g.28211_28212insGGG
NG_070230.1:g.33430_33431insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.949_950insGGG	ENSP00000489147.2:p.Pro317delinsArgAla
ENST00000414786.7:n.1533_1534insGGG
ENST00000445220.7:c.1_2insGGG	ENSP00000489407.2:p.Pro1delinsArgAla
ENST00000673971.2:c.1306_1307insGGG	ENSP00000501192.1:p.Pro436delinsArgAla
ENST00000445220.6:c.1_2insGGG	ENSP00000489407.2:p.Pro1delinsArgAla
ENST00000262795.6:c.949_950insGGG	ENSP00000489147.2:p.Pro317delinsArgAla
ENST00000673971.1:c.1306_1307insGGG	ENSP00000501192.1:p.Pro436delinsArgAla
ENST00000673995.1:c.2_3insGGG
ENST00000262795.5:c.1345_1346insGGG	ENSP00000489147.1:p.Pro449delinsArgAla
ENST00000414786.6:n.1533_1534insGGG
ENST00000445220.5:c.1327_1328insGGG	ENSP00000489407.1:p.Pro443delinsArgAla