Canonical Allele Identifier: CA2585856598
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766993-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766994del , CM000681.2:g.45766994del GRCh38
NC_000019.9:g.46270252del , CM000681.1:g.46270252del GRCh37
NC_000019.8:g.50962092del NCBI36
NG_012745.1:g.7246del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.965del MANE Select ENSP00000316842.4:p.Leu322ArgfsTer2
ENST00000317578.6:c.965del ENSP00000316842.4:p.Leu322ArgfsTer2
ENST00000560160.1:c.587-883del
ENST00000560168.1:c.*153del ENSP00000453189.2:n.*153del
ENST00000622857.1:c.16-1032del ENSP00000481365.1:n.16-1032del
NM_175875.4:c.965del NP_787071.2:p.Leu322ArgfsTer2
NM_175875.5:c.965del MANE Select NP_787071.3:p.Leu322ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'