Canonical Allele Identifier: CA2819323172

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697433_50697434insGGC , CM000684.2:g.50697433_50697434insGGC	GRCh38
NC_000022.10:g.51135861_51135862insGGC , CM000684.1:g.51135861_51135862insGGC	GRCh37
NC_000022.9:g.49482727_49482728insGGC	NCBI36
NG_008607.2:g.27792_27793insGGC
NG_070230.1:g.33011_33012insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-131_948-130insGGC	ENSP00000489147.2:n.948-131_948-130insGGC
ENST00000414786.7:n.1532-131_1532-130insGGC
ENST00000673971.2:c.1305-131_1305-130insGGC	ENSP00000501192.1:n.1305-131_1305-130insGGC
ENST00000262795.6:c.948-131_948-130insGGC	ENSP00000489147.2:n.948-131_948-130insGGC
ENST00000673971.1:c.1305-131_1305-130insGGC	ENSP00000501192.1:n.1305-131_1305-130insGGC
ENST00000262795.5:c.1345-132_1345-131insGGC	ENSP00000489147.1:n.1345-132_1345-131insGGC
ENST00000414786.6:n.1532-131_1532-130insGGC
ENST00000445220.5:c.1326-131_1326-130insGGC	ENSP00000489407.1:n.1326-131_1326-130insGGC