Canonical Allele Identifier: CA2585856549
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766447-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766450del , CM000681.2:g.45766450del GRCh38
NC_000019.9:g.46269708del , CM000681.1:g.46269708del GRCh37
NC_000019.8:g.50961548del NCBI36
NG_012745.1:g.7792del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1511del MANE Select ENSP00000316842.4:p.Pro504LeufsTer2
ENST00000317578.6:c.1511del ENSP00000316842.4:p.Pro504LeufsTer2
ENST00000560160.1:c.587-337del
ENST00000560168.1:c.*699del ENSP00000453189.2:n.*699del
ENST00000622857.1:c.16-486del ENSP00000481365.1:n.16-486del
NM_175875.4:c.1511del NP_787071.2:p.Pro504LeufsTer2
NM_175875.5:c.1511del MANE Select NP_787071.3:p.Pro504LeufsTer2
Search 100 bp 5'
Search 100 bp 3'