Canonical Allele Identifier: CA996336513
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v3: 19-45766420-AG-A
gnomAD v4: 19-45766420-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766423del , CM000681.2:g.45766423del GRCh38
NC_000019.9:g.46269681del , CM000681.1:g.46269681del GRCh37
NC_000019.8:g.50961521del NCBI36
NG_012745.1:g.7819del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1538del MANE Select ENSP00000316842.4:p.Pro513LeufsTer13
ENST00000317578.6:c.1538del ENSP00000316842.4:p.Pro513LeufsTer13
ENST00000560160.1:c.587-310del
ENST00000560168.1:c.*726del ENSP00000453189.2:n.*726del
ENST00000622857.1:c.16-459del ENSP00000481365.1:n.16-459del
NM_175875.4:c.1538del NP_787071.2:p.Pro513LeufsTer13
NM_175875.5:c.1538del MANE Select NP_787071.3:p.Pro513LeufsTer13
Search 100 bp 5'
Search 100 bp 3'