Canonical Allele Identifier: CA769176718
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2729808
ClinVar RCV Id: RCV003508710
dbSNP Id: rs1403385518
gnomAD v4: 2-44942123-CT-C
MyVariant Identifiers: chr2:g.45169263del (hg19) chr2:g.44942124del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942124del , CM000664.2:g.44942124del GRCh38
NC_000002.11:g.45169263del , CM000664.1:g.45169263del GRCh37
NC_000002.10:g.45022767del NCBI36
NG_016222.1:g.5227del

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.20del MANE Select ENSP00000260653.3:p.Leu7GlnfsTer?
ENST00000260653.4:c.20del ENSP00000260653.3:p.Leu7GlnfsTer?
NM_005413.3:c.20del NP_005404.1:p.Leu7GlnfsTer?
XM_011533042.1:c.20del XP_011531344.1:p.Leu7GlnfsTer?
NM_005413.4:c.20del MANE Select NP_005404.1:p.Leu7GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'