Canonical Allele Identifier: CA16621141
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 418906
ClinVar RCV Id: RCV000486581
dbSNP Id: rs1064793514
MyVariant Identifiers: chr22:g.51160370_51160371del (hg19) chr22:g.50721942_50721943del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721942_50721943del , CM000684.2:g.50721942_50721943del GRCh38
NC_000022.10:g.51160370_51160371del , CM000684.1:g.51160370_51160371del GRCh37
NC_000022.9:g.49507236_49507237del NCBI36
NG_008607.2:g.52588_52589del
NG_070230.1:g.57726_57727del

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.3710_3711del ENSP00000489147.2:p.Leu1237ArgfsTer24
ENST00000414786.7:n.4294_4295del
ENST00000445220.7:c.2762_2763del ENSP00000489407.2:p.Leu921ArgfsTer24
ENST00000664402.2:c.2252_2253del ENSP00000499475.1:p.Leu751ArgfsTer24
ENST00000673971.2:c.*2708_*2709del ENSP00000501192.1:n.*2708_*2709del
ENST00000445220.6:c.2762_2763del ENSP00000489407.2:p.Leu921ArgfsTer24
ENST00000262795.6:c.3710_3711del ENSP00000489147.2:p.Leu1237ArgfsTer24
ENST00000664402.1:c.2252_2253del ENSP00000499475.1:p.Leu751ArgfsTer24
ENST00000673971.1:c.*2708_*2709del ENSP00000501192.1:n.*2708_*2709del
ENST00000262795.5:c.4106_4107del ENSP00000489147.1:p.Leu1369ArgfsTer24
ENST00000414786.6:n.4294_4295del
ENST00000445220.5:c.4088_4089del ENSP00000489407.1:p.Leu1363ArgfsTer24
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