Canonical Allele Identifier: CA2585856582
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766818-TGG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766819_45766820del , CM000681.2:g.45766819_45766820del GRCh38
NC_000019.9:g.46270077_46270078del , CM000681.1:g.46270077_46270078del GRCh37
NC_000019.8:g.50961917_50961918del NCBI36
NG_012745.1:g.7420_7421del

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1139_1140del MANE Select ENSP00000316842.4:p.Thr380LysfsTer24
ENST00000317578.6:c.1139_1140del ENSP00000316842.4:p.Thr380LysfsTer24
ENST00000560160.1:c.587-709_587-708del
ENST00000560168.1:c.*327_*328del ENSP00000453189.2:n.*327_*328del
ENST00000622857.1:c.16-858_16-857del ENSP00000481365.1:n.16-858_16-857del
NM_175875.4:c.1139_1140del NP_787071.2:p.Thr380LysfsTer24
NM_175875.5:c.1139_1140del MANE Select NP_787071.3:p.Thr380LysfsTer24
Search 100 bp 5'
Search 100 bp 3'