Canonical Allele Identifier: CA2585856556
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766517-G-GTGGGTACT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766518_45766525dup , CM000681.2:g.45766518_45766525dup GRCh38
NC_000019.9:g.46269776_46269783dup , CM000681.1:g.46269776_46269783dup GRCh37
NC_000019.8:g.50961616_50961623dup NCBI36
NG_012745.1:g.7715_7722dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1434_1441dup MANE Select ENSP00000316842.4:p.Thr481LysfsTer8
ENST00000317578.6:c.1434_1441dup ENSP00000316842.4:p.Thr481LysfsTer8
ENST00000560160.1:c.587-414_587-407dup
ENST00000560168.1:c.*622_*629dup ENSP00000453189.2:n.*622_*629dup
ENST00000622857.1:c.16-563_16-556dup ENSP00000481365.1:n.16-563_16-556dup
NM_175875.4:c.1434_1441dup NP_787071.2:p.Thr481LysfsTer8
NM_175875.5:c.1434_1441dup MANE Select NP_787071.3:p.Thr481LysfsTer8
Search 100 bp 5'
Search 100 bp 3'