Canonical Allele Identifier: CA2585856602
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45767058-GGGCAGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767062_45767067del , CM000681.2:g.45767062_45767067del GRCh38
NC_000019.9:g.46270320_46270325del , CM000681.1:g.46270320_46270325del GRCh37
NC_000019.8:g.50962160_50962165del NCBI36
NG_012745.1:g.7176_7181del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.895_900del MANE Select ENSP00000316842.4:p.Ala299_Ala300del
ENST00000317578.6:c.895_900del ENSP00000316842.4:p.Ala299_Ala300del
ENST00000560160.1:c.587-953_587-948del
ENST00000560168.1:c.*83_*88del ENSP00000453189.2:n.*83_*88del
ENST00000622857.1:c.16-1102_16-1097del ENSP00000481365.1:n.16-1102_16-1097del
NM_175875.4:c.895_900del NP_787071.2:p.Ala299_Ala300del
NM_175875.5:c.895_900del MANE Select NP_787071.3:p.Ala299_Ala300del
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Search 100 bp 3'