Canonical Allele Identifier: CA2338594237
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1969074916
gnomAD v4: 19-45766399-GT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766401del , CM000681.2:g.45766401del GRCh38
NC_000019.9:g.46269659del , CM000681.1:g.46269659del GRCh37
NC_000019.8:g.50961499del NCBI36
NG_012745.1:g.7840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1559del MANE Select ENSP00000316842.4:p.Asn520ThrfsTer6
ENST00000317578.6:c.1559del ENSP00000316842.4:p.Asn520ThrfsTer6
ENST00000560160.1:c.587-289del
ENST00000560168.1:c.*747del ENSP00000453189.2:n.*747del
ENST00000622857.1:c.16-438del ENSP00000481365.1:n.16-438del
NM_175875.4:c.1559del NP_787071.2:p.Asn520ThrfsTer6
NM_175875.5:c.1559del MANE Select NP_787071.3:p.Asn520ThrfsTer6
Search 100 bp 5'
Search 100 bp 3'