Canonical Allele Identifier: CA2576819855
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766760_45766762del , CM000681.2:g.45766760_45766762del GRCh38
NC_000019.9:g.46270018_46270020del , CM000681.1:g.46270018_46270020del GRCh37
NC_000019.8:g.50961858_50961860del NCBI36
NG_012745.1:g.7479_7481del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1198_1200del MANE Select ENSP00000316842.4:p.Ser400del
ENST00000317578.6:c.1198_1200del ENSP00000316842.4:p.Ser400del
ENST00000560160.1:c.587-650_587-648del
ENST00000560168.1:c.*386_*388del ENSP00000453189.2:n.*386_*388del
ENST00000622857.1:c.16-799_16-797del ENSP00000481365.1:n.16-799_16-797del
NM_175875.4:c.1198_1200del NP_787071.2:p.Ser400del
NM_175875.5:c.1198_1200del MANE Select NP_787071.3:p.Ser400del