Canonical Allele Identifier: CA2410995244

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697491_50697492delinsCG , CM000684.2:g.50697491_50697492delinsCG	GRCh38
NC_000022.10:g.51135919_51135920delinsCG , CM000684.1:g.51135919_51135920delinsCG	GRCh37
NC_000022.9:g.49482785_49482786delinsCG	NCBI36
NG_008607.2:g.27850_27851delinsCG
NG_070230.1:g.33069_33070delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-73_948-72delinsCG	ENSP00000489147.2:n.948-73_948-72delinsCG
ENST00000414786.7:n.1532-73_1532-72delinsCG
ENST00000673971.2:c.1305-73_1305-72delinsCG	ENSP00000501192.1:n.1305-73_1305-72delinsCG
ENST00000262795.6:c.948-73_948-72delinsCG	ENSP00000489147.2:n.948-73_948-72delinsCG
ENST00000673971.1:c.1305-73_1305-72delinsCG	ENSP00000501192.1:n.1305-73_1305-72delinsCG
ENST00000262795.5:c.1345-74_1345-73delinsCG	ENSP00000489147.1:n.1345-74_1345-73delinsCG
ENST00000414786.6:n.1532-73_1532-72delinsCG
ENST00000445220.5:c.1326-73_1326-72delinsCG	ENSP00000489407.1:n.1326-73_1326-72delinsCG