Canonical Allele Identifier: CA2658869543
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v4: 2-44942303-GGC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942305_44942306del , CM000664.2:g.44942305_44942306del GRCh38
NC_000002.11:g.45169444_45169445del , CM000664.1:g.45169444_45169445del GRCh37
NC_000002.10:g.45022948_45022949del NCBI36
NG_016222.1:g.5408_5409del

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.201_202del MANE Select ENSP00000260653.3:p.Gly68ArgfsTer29
ENST00000260653.4:c.201_202del ENSP00000260653.3:p.Gly68ArgfsTer29
NM_005413.3:c.201_202del NP_005404.1:p.Gly68ArgfsTer29
XM_011533042.1:c.201_202del XP_011531344.1:p.Gly68ArgfsTer29
NM_005413.4:c.201_202del MANE Select NP_005404.1:p.Gly68ArgfsTer29
Search 100 bp 5'
Search 100 bp 3'