Canonical Allele Identifier: CA1642261
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2083599
ClinVar RCV Id: RCV003002656 RCV003002657
dbSNP Id: rs773045257
ExAC: 2:45169354 TGCGGGAGGCGGCGGCGGC / T
gnomAD v2: 2-45169354-TGCGGGAGGCGGCGGCGGC-T
gnomAD v3: 2-44942215-TGCGGGAGGCGGCGGCGGC-T
gnomAD v4: 2-44942215-TGCGGGAGGCGGCGGCGGC-T
MyVariant Identifiers: chr2:g.45169355_45169372del (hg19) chr2:g.44942216_44942233del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942228_44942245del , CM000664.2:g.44942228_44942245del GRCh38
NC_000002.11:g.45169367_45169384del , CM000664.1:g.45169367_45169384del GRCh37
NC_000002.10:g.45022871_45022888del NCBI36
NG_016222.1:g.5331_5348del

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.124_141del MANE Select ENSP00000260653.3:p.Gly42_Gly47del
ENST00000260653.4:c.124_141del ENSP00000260653.3:p.Gly42_Gly47del
NM_005413.3:c.124_141del NP_005404.1:p.Gly42_Gly47del
XM_011533042.1:c.124_141del XP_011531344.1:p.Gly42_Gly47del
NM_005413.4:c.124_141del MANE Select NP_005404.1:p.Gly42_Gly47del
Search 100 bp 5'
Search 100 bp 3'