Canonical Allele Identifier: CA2819325417

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697505_50697506dup , CM000684.2:g.50697505_50697506dup	GRCh38
NC_000022.10:g.51135933_51135934dup , CM000684.1:g.51135933_51135934dup	GRCh37
NC_000022.9:g.49482799_49482800dup	NCBI36
NG_008607.2:g.27864_27865dup
NG_070230.1:g.33083_33084dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-59_948-58dup	ENSP00000489147.2:n.948-59_948-58dup
ENST00000414786.7:n.1532-59_1532-58dup
ENST00000673971.2:c.1305-59_1305-58dup	ENSP00000501192.1:n.1305-59_1305-58dup
ENST00000262795.6:c.948-59_948-58dup	ENSP00000489147.2:n.948-59_948-58dup
ENST00000673971.1:c.1305-59_1305-58dup	ENSP00000501192.1:n.1305-59_1305-58dup
ENST00000262795.5:c.1345-60_1345-59dup	ENSP00000489147.1:n.1345-60_1345-59dup
ENST00000414786.6:n.1532-59_1532-58dup
ENST00000445220.5:c.1326-59_1326-58dup	ENSP00000489407.1:n.1326-59_1326-58dup