Canonical Allele Identifier: CA2576819829
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766429_45766431dup , CM000681.2:g.45766429_45766431dup GRCh38
NC_000019.9:g.46269687_46269689dup , CM000681.1:g.46269687_46269689dup GRCh37
NC_000019.8:g.50961527_50961529dup NCBI36
NG_012745.1:g.7813_7815dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1532_1534dup MANE Select ENSP00000316842.4:p.Ala511_Gly512insAla
ENST00000317578.6:c.1532_1534dup ENSP00000316842.4:p.Ala511_Gly512insAla
ENST00000560160.1:c.587-316_587-314dup
ENST00000560168.1:c.*720_*722dup ENSP00000453189.2:n.*720_*722dup
ENST00000622857.1:c.16-465_16-463dup ENSP00000481365.1:n.16-465_16-463dup
NM_175875.4:c.1532_1534dup NP_787071.2:p.Ala511_Gly512insAla
NM_175875.5:c.1532_1534dup MANE Select NP_787071.3:p.Ala511_Gly512insAla
Search 100 bp 5'
Search 100 bp 3'