Canonical Allele Identifier: CA2338594238
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766400_45766403delinsTTGA , CM000681.2:g.45766400_45766403delinsTTGA GRCh38
NC_000019.9:g.46269658_46269661delinsTTGA , CM000681.1:g.46269658_46269661delinsTTGA GRCh37
NC_000019.8:g.50961498_50961501delinsTTGA NCBI36
NG_012745.1:g.7837_7840delinsTCAA

Transcript Alleles

HGVS Amino-acid change
ENST00000317578.7:c.1556_1559delinsTCAA MANE Select ENSP00000316842.4:p.Ile519=
ENST00000317578.6:c.1556_1559delinsTCAA ENSP00000316842.4:p.Ile519=
ENST00000560160.1:c.587-292_587-289delinsTCAA
ENST00000560168.1:c.*744_*747delinsTCAA ENSP00000453189.2:n.*744_*747delinsTCAA
ENST00000622857.1:c.16-441_16-438delinsTCAA ENSP00000481365.1:n.16-441_16-438delinsTCAA
NM_175875.4:c.1556_1559delinsTCAA NP_787071.2:p.Ile519=
NM_175875.5:c.1556_1559delinsTCAA MANE Select NP_787071.3:p.Ile519=
Search 100 bp 5'
Search 100 bp 3'