Canonical Allele Identifier: CA2819316445

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50722176_50722177insAACACACCCAACACA , CM000684.2:g.50722176_50722177insAACACACCCAACACA	GRCh38
NC_000022.10:g.51160604_51160605insAACACACCCAACACA , CM000684.1:g.51160604_51160605insAACACACCCAACACA	GRCh37
NC_000022.9:g.49507470_49507471insAACACACCCAACACA	NCBI36
NG_008607.2:g.52822_52823insAACACACCCAACACA
NG_070230.1:g.57960_57961insAACACACCCAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3944_3945insAACACACCCAACACA	ENSP00000489147.2:p.His1314_His1315insGlnThrHisProThr
ENST00000414786.7:n.4528_4529insAACACACCCAACACA
ENST00000445220.7:c.2996_2997insAACACACCCAACACA	ENSP00000489407.2:p.His998_His999insGlnThrHisProThr
ENST00000664402.2:c.2486_2487insAACACACCCAACACA	ENSP00000499475.1:p.His828_His829insGlnThrHisProThr
ENST00000673971.2:c.*2942_*2943insAACACACCCAACACA	ENSP00000501192.1:n.*2942_*2943insAACACACCCAACACA
ENST00000445220.6:c.2996_2997insAACACACCCAACACA	ENSP00000489407.2:p.His998_His999insGlnThrHisProThr
ENST00000262795.6:c.3944_3945insAACACACCCAACACA	ENSP00000489147.2:p.His1314_His1315insGlnThrHisProThr
ENST00000664402.1:c.2486_2487insAACACACCCAACACA	ENSP00000499475.1:p.His828_His829insGlnThrHisProThr
ENST00000673971.1:c.*2942_*2943insAACACACCCAACACA	ENSP00000501192.1:n.*2942_*2943insAACACACCCAACACA
ENST00000262795.5:c.4340_4341insAACACACCCAACACA	ENSP00000489147.1:p.His1446_His1447insGlnThrHisProThr
ENST00000414786.6:n.4528_4529insAACACACCCAACACA
ENST00000445220.5:c.4322_4323insAACACACCCAACACA	ENSP00000489407.1:p.His1440_His1441insGlnThrHisProThr