Canonical Allele Identifier: CA2585856600

Gene: SIX5

Linked Data

• gnomAD v4: 19-45767034-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767037dup , CM000681.2:g.45767037dup	GRCh38
NC_000019.9:g.46270295dup , CM000681.1:g.46270295dup	GRCh37
NC_000019.8:g.50962135dup	NCBI36
NG_012745.1:g.7205dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.924dup MANE Select	ENSP00000316842.4:p.Thr309AspfsTer?
ENST00000317578.6:c.924dup	ENSP00000316842.4:p.Thr309AspfsTer?
ENST00000560160.1:c.587-924dup
ENST00000560168.1:c.*112dup	ENSP00000453189.2:n.*112dup
ENST00000622857.1:c.16-1073dup	ENSP00000481365.1:n.16-1073dup
NM_175875.4:c.924dup	NP_787071.2:p.Thr309AspfsTer?
NM_175875.5:c.924dup MANE Select	NP_787071.3:p.Thr309AspfsTer?