Canonical Allele Identifier: CA2819325441

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697584_50697585insGG , CM000684.2:g.50697584_50697585insGG	GRCh38
NC_000022.10:g.51136012_51136013insGG , CM000684.1:g.51136012_51136013insGG	GRCh37
NC_000022.9:g.49482878_49482879insGG	NCBI36
NG_008607.2:g.28230_28231insGG
NG_070230.1:g.33449_33450insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.968_969insGG	ENSP00000489147.2:p.Pro325HisfsTer23
ENST00000414786.7:n.1552_1553insGG
ENST00000445220.7:c.20_21insGG	ENSP00000489407.2:p.Pro9HisfsTer23
ENST00000673971.2:c.1325_1326insGG	ENSP00000501192.1:p.Pro444HisfsTer23
ENST00000445220.6:c.20_21insGG	ENSP00000489407.2:p.Pro9HisfsTer23
ENST00000262795.6:c.968_969insGG	ENSP00000489147.2:p.Pro325HisfsTer23
ENST00000673971.1:c.1325_1326insGG	ENSP00000501192.1:p.Pro444HisfsTer23
ENST00000673995.1:c.21_22insGG
ENST00000262795.5:c.1364_1365insGG	ENSP00000489147.1:p.Pro457HisfsTer23
ENST00000414786.6:n.1552_1553insGG
ENST00000445220.5:c.1346_1347insGG	ENSP00000489407.1:p.Pro451HisfsTer23