Canonical Allele Identifier: CA1642280
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3060494
ClinVar RCV Id: RCV003984473
dbSNP Id: rs555285206
ExAC: 2:45169429 AGGC / A
gnomAD v2: 2-45169429-AGGC-A
gnomAD v3: 2-44942290-AGGC-A
gnomAD v4: 2-44942290-AGGC-A
COSMIC: COSM4726225
MyVariant Identifiers: chr2:g.45169436_45169438del (hg19) chr2:g.45169430_45169432del (hg19) chr2:g.44942297_44942299del (hg38) chr2:g.44942291_44942293del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942309_44942311del , CM000664.2:g.44942309_44942311del GRCh38
NC_000002.11:g.45169448_45169450del , CM000664.1:g.45169448_45169450del GRCh37
NC_000002.10:g.45022952_45022954del NCBI36
NG_016222.1:g.5412_5414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.205_207del MANE Select ENSP00000260653.3:p.Gly69del
ENST00000260653.4:c.205_207del ENSP00000260653.3:p.Gly69del
NM_005413.3:c.205_207del NP_005404.1:p.Gly69del
XM_011533042.1:c.205_207del XP_011531344.1:p.Gly69del
NM_005413.4:c.205_207del MANE Select NP_005404.1:p.Gly69del
Search 100 bp 5'
Search 100 bp 3'