Canonical Allele Identifier: CA340050
Gene: SBDS HGNC NCBI

Linked Data

ClinVar Variation Id: 3195
ClinVar RCV Id: RCV002496241 RCV003472961 RCV003904800
dbSNP Id: rs113993991
MyVariant Identifiers: chr7:g.66459273_66459274delinsAG (hg19) chr7:g.66994286_66994287delinsAG (hg38)
PubMed: PMID:10393609 PMID:10556188 PMID:11553003 PMID:12496757 PMID:14984468 PMID:15284109 PMID:15769891 PMID:15942154 PMID:16047374 PMID:16867904 PMID:20301722 PMID:21536732 PMID:22191555 PMID:23351992 PMID:24388329
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66994286_66994287delinsAG , CM000669.2:g.66994286_66994287delinsAG GRCh38
NC_000007.13:g.66459273_66459274delinsAG , CM000669.1:g.66459273_66459274delinsAG GRCh37
NC_000007.12:g.66096708_66096709delinsAG NCBI36
NG_007277.1:g.6315_6316delinsCT , LRG_104:g.6315_6316delinsCT
NG_033069.1:g.2482_2483delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000414306.6:c.183_184delinsCT ENSP00000394586.1:p.Ser62Ter
ENST00000697860.1:n.150_151delinsCT
ENST00000697861.1:c.183_184delinsCT ENSP00000513460.1:p.Ser62Ter
ENST00000697862.1:c.183_184delinsCT ENSP00000513461.1:p.Ser62Ter
ENST00000697863.1:c.126_127delinsCT ENSP00000513462.1:p.Ser43Ter
ENST00000697864.1:n.1327_1328delinsCT
ENST00000697865.1:c.126_127delinsCT ENSP00000513463.1:p.Ser43Ter
ENST00000697866.1:c.-136_-135delinsCT ENSP00000513464.1:n.-136_-135delinsCT
ENST00000697867.1:c.23_24delinsCT
ENST00000697868.1:c.129-5_129-4delinsCT ENSP00000513466.1:n.129-5_129-4delinsCT
ENST00000697869.1:c.129-10_129-9delinsCT ENSP00000513467.1:n.129-10_129-9delinsCT
ENST00000697897.1:c.183_184delinsCT ENSP00000513469.1:p.Ser62Ter
ENST00000246868.7:c.183_184delinsCT MANE Select ENSP00000246868.2:p.Ser62Ter
ENST00000246868.6:c.183_184delinsCT ENSP00000246868.2:p.Ser62Ter
ENST00000414306.5:c.183_184delinsCT ENSP00000394586.1:p.Ser62Ter
ENST00000463579.1:n.80_81delinsCT
ENST00000490953.5:n.332_333delinsCT
ENST00000617799.1:c.183_184delinsCT ENSP00000483040.1:p.Ser62Ter
NM_016038.2:c.183_184delinsCT , LRG_104t1:c.183_184delinsCT NP_057122.2:p.Ser62Ter
NM_016038.3:c.183_184delinsCT NP_057122.2:p.Ser62Ter
NM_016038.4:c.183_184delinsCT MANE Select NP_057122.2:p.Ser62Ter
Search 100 bp 5'
Search 100 bp 3'