Canonical Allele Identifier: CA1642260
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378258
ClinVar RCV Id: RCV001890121 RCV002552778
dbSNP Id: rs768858586
ExAC: 2:45169350 A / ACGGTGCGGGAGGCGGCGG
gnomAD v2: 2-45169350-A-ACGGTGCGGGAGGCGGCGG
gnomAD v3: 2-44942211-A-ACGGTGCGGGAGGCGGCGG
gnomAD v4: 2-44942211-A-ACGGTGCGGGAGGCGGCGG
MyVariant Identifiers: chr2:g.45169350_45169351insCGGTGCGGGAGGCGGCGG (hg19) chr2:g.44942211_44942212insCGGTGCGGGAGGCGGCGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942215_44942232dup , CM000664.2:g.44942215_44942232dup GRCh38
NC_000002.11:g.45169354_45169371dup , CM000664.1:g.45169354_45169371dup GRCh37
NC_000002.10:g.45022858_45022875dup NCBI36
NG_016222.1:g.5318_5335dup

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.111_128dup MANE Select ENSP00000260653.3:p.Gly43_Ala44insAlaGlyGlyGlyGlyGly
ENST00000260653.4:c.111_128dup ENSP00000260653.3:p.Gly43_Ala44insAlaGlyGlyGlyGlyGly
NM_005413.3:c.111_128dup NP_005404.1:p.Gly43_Ala44insAlaGlyGlyGlyGlyGly
XM_011533042.1:c.111_128dup XP_011531344.1:p.Gly43_Ala44insAlaGlyGlyGlyGlyGly
NM_005413.4:c.111_128dup MANE Select NP_005404.1:p.Gly43_Ala44insAlaGlyGlyGlyGlyGly
Search 100 bp 5'
Search 100 bp 3'