Canonical Allele Identifier: CA2585856583
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766819-GGT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766820_45766821del , CM000681.2:g.45766820_45766821del GRCh38
NC_000019.9:g.46270078_46270079del , CM000681.1:g.46270078_46270079del GRCh37
NC_000019.8:g.50961918_50961919del NCBI36
NG_012745.1:g.7419_7420del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1138_1139del MANE Select ENSP00000316842.4:p.Thr380GlnfsTer24
ENST00000317578.6:c.1138_1139del ENSP00000316842.4:p.Thr380GlnfsTer24
ENST00000560160.1:c.587-710_587-709del
ENST00000560168.1:c.*326_*327del ENSP00000453189.2:n.*326_*327del
ENST00000622857.1:c.16-859_16-858del ENSP00000481365.1:n.16-859_16-858del
NM_175875.4:c.1138_1139del NP_787071.2:p.Thr380GlnfsTer24
NM_175875.5:c.1138_1139del MANE Select NP_787071.3:p.Thr380GlnfsTer24
Search 100 bp 5'
Search 100 bp 3'