Canonical Allele Identifier: CA10603697
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 280221
ClinVar RCV Id: RCV000407432
dbSNP Id: rs886041467
MyVariant Identifiers: chr22:g.51169450_51169465dup16 (hg19) chr22:g.50731022_50731037dup16 (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50731022_50731037dup , CM000684.2:g.50731022_50731037dup GRCh38
NC_000022.10:g.51169450_51169465dup , CM000684.1:g.51169450_51169465dup GRCh37
NC_000022.9:g.49516316_49516331dup NCBI36
NG_008607.2:g.61668_61683dup
NG_070230.1:g.66806_66821dup

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.4534_4549dup ENSP00000489147.2:p.Pro1517LeufsTer?
ENST00000414786.7:n.5118_5133dup
ENST00000445220.7:c.3586_3601dup ENSP00000489407.2:p.Pro1201LeufsTer?
ENST00000664402.2:c.3076_3091dup ENSP00000499475.1:p.Pro1031LeufsTer?
ENST00000673971.2:c.*3532_*3547dup ENSP00000501192.1:n.*3532_*3547dup
ENST00000445220.6:c.3586_3601dup ENSP00000489407.2:p.Pro1201LeufsTer?
ENST00000262795.6:c.4534_4549dup ENSP00000489147.2:p.Pro1517LeufsTer?
ENST00000659388.1:c.349_364dup ENSP00000499632.1:p.Pro122LeufsTer?
ENST00000664402.1:c.3076_3091dup ENSP00000499475.1:p.Pro1031LeufsTer?
ENST00000673971.1:c.*3532_*3547dup ENSP00000501192.1:n.*3532_*3547dup
ENST00000262795.5:c.4903_4918dup ENSP00000489147.1:p.Pro1640LeufsTer?
ENST00000414786.6:n.5118_5133dup
ENST00000445220.5:c.4885_4900dup ENSP00000489407.1:p.Pro1634LeufsTer?
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