Canonical Allele Identifier: CA1642255
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1346455
ClinVar RCV Id: RCV002050118
dbSNP Id: rs747291764
ExAC: 2:45169336 TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC / T
gnomAD v2: 2-45169336-TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC-T
gnomAD v3: 2-44942197-TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC-T
gnomAD v4: 2-44942197-TAGCGGCGGCGGGAACGGTGCGGGAGGCGGCGGCGGCGCGGGAGGCGGC-T
MyVariant Identifiers: chr2:g.45169337_45169384del (hg19) chr2:g.44942198_44942245del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942230_44942277del , CM000664.2:g.44942230_44942277del GRCh38
NC_000002.11:g.45169369_45169416del , CM000664.1:g.45169369_45169416del GRCh37
NC_000002.10:g.45022873_45022920del NCBI36
NG_016222.1:g.5333_5380del

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.126_173del MANE Select ENSP00000260653.3:p.Gly43_Gly58del
ENST00000260653.4:c.126_173del ENSP00000260653.3:p.Gly43_Gly58del
NM_005413.3:c.126_173del NP_005404.1:p.Gly43_Gly58del
XM_011533042.1:c.126_173del XP_011531344.1:p.Gly43_Gly58del
NM_005413.4:c.126_173del MANE Select NP_005404.1:p.Gly43_Gly58del
Search 100 bp 5'
Search 100 bp 3'