Canonical Allele Identifier: CA2561017072

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697597_50697598insGGGCG , CM000684.2:g.50697597_50697598insGGGCG	GRCh38
NC_000022.10:g.51136025_51136026insGGGCG , CM000684.1:g.51136025_51136026insGGGCG	GRCh37
NC_000022.9:g.49482891_49482892insGGGCG	NCBI36
NG_008607.2:g.28243_28244insGGGCG
NG_070230.1:g.33462_33463insGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.981_982insGGGCG	ENSP00000489147.2:p.Arg328GlyfsTer21
ENST00000414786.7:n.1565_1566insGGGCG
ENST00000445220.7:c.33_34insGGGCG	ENSP00000489407.2:p.Arg12GlyfsTer21
ENST00000673971.2:c.1338_1339insGGGCG	ENSP00000501192.1:p.Arg447GlyfsTer21
ENST00000445220.6:c.33_34insGGGCG	ENSP00000489407.2:p.Arg12GlyfsTer21
ENST00000262795.6:c.981_982insGGGCG	ENSP00000489147.2:p.Arg328GlyfsTer21
ENST00000673971.1:c.1338_1339insGGGCG	ENSP00000501192.1:p.Arg447GlyfsTer21
ENST00000673995.1:c.34_35insGGGCG
ENST00000262795.5:c.1377_1378insGGGCG	ENSP00000489147.1:p.Arg460GlyfsTer21
ENST00000414786.6:n.1565_1566insGGGCG
ENST00000445220.5:c.1359_1360insGGGCG	ENSP00000489407.1:p.Arg454GlyfsTer21