Canonical Allele Identifier: CA2814553501
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766429_45766431del , CM000681.2:g.45766429_45766431del GRCh38
NC_000019.9:g.46269687_46269689del , CM000681.1:g.46269687_46269689del GRCh37
NC_000019.8:g.50961527_50961529del NCBI36
NG_012745.1:g.7813_7815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1532_1534del MANE Select ENSP00000316842.4:p.Ala511del
ENST00000317578.6:c.1532_1534del ENSP00000316842.4:p.Ala511del
ENST00000560160.1:c.587-316_587-314del
ENST00000560168.1:c.*720_*722del ENSP00000453189.2:n.*720_*722del
ENST00000622857.1:c.16-465_16-463del ENSP00000481365.1:n.16-465_16-463del
NM_175875.4:c.1532_1534del NP_787071.2:p.Ala511del
NM_175875.5:c.1532_1534del MANE Select NP_787071.3:p.Ala511del
Search 100 bp 5'
Search 100 bp 3'