Canonical Allele Identifier: CA1139667205

Gene: SHANK3

Linked Data

• ClinVar Variation Id: 986909
• ClinVar RCV Id: RCV001268070
• dbSNP Id: rs2083281950

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721048_50721063dup , CM000684.2:g.50721048_50721063dup	GRCh38
NC_000022.10:g.51159476_51159491dup , CM000684.1:g.51159476_51159491dup	GRCh37
NC_000022.9:g.49506342_49506357dup	NCBI36
NG_008607.2:g.51694_51709dup
NG_070230.1:g.56832_56847dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2816_2831dup	ENSP00000489147.2:p.Lys945ProfsTer?
ENST00000414786.7:n.3400_3415dup
ENST00000445220.7:c.1868_1883dup	ENSP00000489407.2:p.Lys629ProfsTer?
ENST00000664402.2:c.1358_1373dup	ENSP00000499475.1:p.Lys459ProfsTer?
ENST00000673971.2:c.*1814_*1829dup	ENSP00000501192.1:n.*1814_*1829dup
ENST00000445220.6:c.1868_1883dup	ENSP00000489407.2:p.Lys629ProfsTer?
ENST00000262795.6:c.2816_2831dup	ENSP00000489147.2:p.Lys945ProfsTer?
ENST00000664402.1:c.1358_1373dup	ENSP00000499475.1:p.Lys459ProfsTer?
ENST00000673971.1:c.*1814_*1829dup	ENSP00000501192.1:n.*1814_*1829dup
ENST00000262795.5:c.3212_3227dup	ENSP00000489147.1:p.Lys1077ProfsTer?
ENST00000414786.6:n.3400_3415dup
ENST00000445220.5:c.3194_3209dup	ENSP00000489407.1:p.Lys1071ProfsTer?