Canonical Allele Identifier: CA2494534953
Gene: SIX3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942211_44942229delinsACGGTGCGGGAGGCGGCGG , CM000664.2:g.44942211_44942229delinsACGGTGCGGGAGGCGGCGG GRCh38
NC_000002.11:g.45169350_45169368delinsACGGTGCGGGAGGCGGCGG , CM000664.1:g.45169350_45169368delinsACGGTGCGGGAGGCGGCGG GRCh37
NC_000002.10:g.45022854_45022872delinsACGGTGCGGGAGGCGGCGG NCBI36
NG_016222.1:g.5314_5332delinsACGGTGCGGGAGGCGGCGG

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.107_125delinsACGGTGCGGGAGGCGGCGG MANE Select ENSP00000260653.3:p.Asn36=
ENST00000260653.4:c.107_125delinsACGGTGCGGGAGGCGGCGG ENSP00000260653.3:p.Asn36=
NM_005413.3:c.107_125delinsACGGTGCGGGAGGCGGCGG NP_005404.1:p.Asn36=
XM_011533042.1:c.107_125delinsACGGTGCGGGAGGCGGCGG XP_011531344.1:p.Asn36=
NM_005413.4:c.107_125delinsACGGTGCGGGAGGCGGCGG MANE Select NP_005404.1:p.Asn36=
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