Canonical Allele Identifier: CA2576819857
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766964-C-CCGCTGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766966_45766971dup , CM000681.2:g.45766966_45766971dup GRCh38
NC_000019.9:g.46270224_46270229dup , CM000681.1:g.46270224_46270229dup GRCh37
NC_000019.8:g.50962064_50962069dup NCBI36
NG_012745.1:g.7270_7275dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.989_994dup MANE Select ENSP00000316842.4:p.Ser331_Gly332insAlaSer
ENST00000317578.6:c.989_994dup ENSP00000316842.4:p.Ser331_Gly332insAlaSer
ENST00000560160.1:c.587-859_587-854dup
ENST00000560168.1:c.*177_*182dup ENSP00000453189.2:n.*177_*182dup
ENST00000622857.1:c.16-1008_16-1003dup ENSP00000481365.1:n.16-1008_16-1003dup
NM_175875.4:c.989_994dup NP_787071.2:p.Ser331_Gly332insAlaSer
NM_175875.5:c.989_994dup MANE Select NP_787071.3:p.Ser331_Gly332insAlaSer
Search 100 bp 5'
Search 100 bp 3'