Canonical Allele Identifier: CA2585856555
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766507-CA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766508del , CM000681.2:g.45766508del GRCh38
NC_000019.9:g.46269766del , CM000681.1:g.46269766del GRCh37
NC_000019.8:g.50961606del NCBI36
NG_012745.1:g.7732del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1451del MANE Select ENSP00000316842.4:p.Val484GlyfsTer2
ENST00000317578.6:c.1451del ENSP00000316842.4:p.Val484GlyfsTer2
ENST00000560160.1:c.587-397del
ENST00000560168.1:c.*639del ENSP00000453189.2:n.*639del
ENST00000622857.1:c.16-546del ENSP00000481365.1:n.16-546del
NM_175875.4:c.1451del NP_787071.2:p.Val484GlyfsTer2
NM_175875.5:c.1451del MANE Select NP_787071.3:p.Val484GlyfsTer2
Search 100 bp 5'
Search 100 bp 3'