Canonical Allele Identifier: CA16621140
Gene: SHANK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 419513
ClinVar RCV Id: RCV000482518
dbSNP Id: rs1064793925

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50721088_50721092del , CM000684.2:g.50721088_50721092del GRCh38
NC_000022.10:g.51159516_51159520del , CM000684.1:g.51159516_51159520del GRCh37
NC_000022.9:g.49506382_49506386del NCBI36
NG_008607.2:g.51734_51738del
NG_070230.1:g.56872_56876del

Transcript Alleles

HGVS Amino-acid change
ENST00000262795.7:c.2856_2860del ENSP00000489147.2:p.Ser952ArgfsTer?
ENST00000414786.7:n.3440_3444del
ENST00000445220.7:c.1908_1912del ENSP00000489407.2:p.Ser636ArgfsTer?
ENST00000664402.2:c.1398_1402del ENSP00000499475.1:p.Ser466ArgfsTer?
ENST00000673971.2:c.*1854_*1858del ENSP00000501192.1:n.*1854_*1858del
ENST00000445220.6:c.1908_1912del ENSP00000489407.2:p.Ser636ArgfsTer?
ENST00000262795.6:c.2856_2860del ENSP00000489147.2:p.Ser952ArgfsTer?
ENST00000664402.1:c.1398_1402del ENSP00000499475.1:p.Ser466ArgfsTer?
ENST00000673971.1:c.*1854_*1858del ENSP00000501192.1:n.*1854_*1858del
ENST00000262795.5:c.3252_3256del ENSP00000489147.1:p.Ser1084ArgfsTer?
ENST00000414786.6:n.3440_3444del
ENST00000445220.5:c.3234_3238del ENSP00000489407.1:p.Ser1078ArgfsTer?