Canonical Allele Identifier: CA2585856585
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766829-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766834dup , CM000681.2:g.45766834dup GRCh38
NC_000019.9:g.46270092dup , CM000681.1:g.46270092dup GRCh37
NC_000019.8:g.50961932dup NCBI36
NG_012745.1:g.7410dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1129dup MANE Select ENSP00000316842.4:p.Ala377GlyfsTer28
ENST00000317578.6:c.1129dup ENSP00000316842.4:p.Ala377GlyfsTer28
ENST00000560160.1:c.587-719dup
ENST00000560168.1:c.*317dup ENSP00000453189.2:n.*317dup
ENST00000622857.1:c.16-868dup ENSP00000481365.1:n.16-868dup
NM_175875.4:c.1129dup NP_787071.2:p.Ala377GlyfsTer28
NM_175875.5:c.1129dup MANE Select NP_787071.3:p.Ala377GlyfsTer28
Search 100 bp 5'
Search 100 bp 3'