Canonical Allele Identifier: CA2585856599
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45767004-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767006del , CM000681.2:g.45767006del GRCh38
NC_000019.9:g.46270264del , CM000681.1:g.46270264del GRCh37
NC_000019.8:g.50962104del NCBI36
NG_012745.1:g.7235del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.954del MANE Select ENSP00000316842.4:p.Ser319ProfsTer5
ENST00000317578.6:c.954del ENSP00000316842.4:p.Ser319ProfsTer5
ENST00000560160.1:c.587-894del
ENST00000560168.1:c.*142del ENSP00000453189.2:n.*142del
ENST00000622857.1:c.16-1043del ENSP00000481365.1:n.16-1043del
NM_175875.4:c.954del NP_787071.2:p.Ser319ProfsTer5
NM_175875.5:c.954del MANE Select NP_787071.3:p.Ser319ProfsTer5
Search 100 bp 5'
Search 100 bp 3'