Canonical Allele Identifier: CA2494535077
Gene: SIX3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942290_44942299delinsAGGCGGCGGC , CM000664.2:g.44942290_44942299delinsAGGCGGCGGC GRCh38
NC_000002.11:g.45169429_45169438delinsAGGCGGCGGC , CM000664.1:g.45169429_45169438delinsAGGCGGCGGC GRCh37
NC_000002.10:g.45022933_45022942delinsAGGCGGCGGC NCBI36
NG_016222.1:g.5393_5402delinsAGGCGGCGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.186_195delinsAGGCGGCGGC MANE Select ENSP00000260653.3:p.Ala62=
ENST00000260653.4:c.186_195delinsAGGCGGCGGC ENSP00000260653.3:p.Ala62=
NM_005413.3:c.186_195delinsAGGCGGCGGC NP_005404.1:p.Ala62=
XM_011533042.1:c.186_195delinsAGGCGGCGGC XP_011531344.1:p.Ala62=
NM_005413.4:c.186_195delinsAGGCGGCGGC MANE Select NP_005404.1:p.Ala62=
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