Canonical Allele Identifier: CA2585856592
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766929_45766931del , CM000681.2:g.45766929_45766931del GRCh38
NC_000019.9:g.46270187_46270189del , CM000681.1:g.46270187_46270189del GRCh37
NC_000019.8:g.50962027_50962029del NCBI36
NG_012745.1:g.7315_7317del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1034_1036del MANE Select ENSP00000316842.4:p.Ile345del
ENST00000317578.6:c.1034_1036del ENSP00000316842.4:p.Ile345del
ENST00000560160.1:c.587-814_587-812del
ENST00000560168.1:c.*222_*224del ENSP00000453189.2:n.*222_*224del
ENST00000622857.1:c.16-963_16-961del ENSP00000481365.1:n.16-963_16-961del
NM_175875.4:c.1034_1036del NP_787071.2:p.Ile345del
NM_175875.5:c.1034_1036del MANE Select NP_787071.3:p.Ile345del