Canonical Allele Identifier: CA2597075087
Gene: SIX3 HGNC NCBI

Linked Data

gnomAD v3: 2-44942197-T-TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
gnomAD v4: 2-44942197-T-TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942230_44942277dup , CM000664.2:g.44942230_44942277dup GRCh38
NC_000002.11:g.45169369_45169416dup , CM000664.1:g.45169369_45169416dup GRCh37
NC_000002.10:g.45022873_45022920dup NCBI36
NG_016222.1:g.5333_5380dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.126_173dup MANE Select ENSP00000260653.3:p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGly...
ENST00000260653.4:c.126_173dup ENSP00000260653.3:p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGly...
NM_005413.3:c.126_173dup NP_005404.1:p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGly...
XM_011533042.1:c.126_173dup XP_011531344.1:p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsn...
NM_005413.4:c.126_173dup MANE Select NP_005404.1:p.Gly58_Ala59insGlyAlaGlyGlyGlySerGlyGlyGlyAsnGly...
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