Canonical Allele Identifier: CA9520690
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs763403236
ExAC: 19:46270194 G / GC
gnomAD v2: 19-46270194-G-GC
gnomAD v4: 19-45766936-G-GC
MyVariant Identifiers: chr19:g.46270194_46270195insC (hg19) chr19:g.45766936_45766937insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766941dup , CM000681.2:g.45766941dup GRCh38
NC_000019.9:g.46270199dup , CM000681.1:g.46270199dup GRCh37
NC_000019.8:g.50962039dup NCBI36
NG_012745.1:g.7303dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1022dup MANE Select ENSP00000316842.4:p.Val343ArgfsTer?
ENST00000317578.6:c.1022dup ENSP00000316842.4:p.Val343ArgfsTer?
ENST00000560160.1:c.587-826dup
ENST00000560168.1:c.*210dup ENSP00000453189.2:n.*210dup
ENST00000622857.1:c.16-975dup ENSP00000481365.1:n.16-975dup
NM_175875.4:c.1022dup NP_787071.2:p.Val343ArgfsTer?
NM_175875.5:c.1022dup MANE Select NP_787071.3:p.Val343ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'