Canonical Allele Identifier: CA532706661
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2115518
ClinVar RCV Id: RCV003032700
dbSNP Id: rs749091048
gnomAD v2: 2-45169360-AGGC-A
gnomAD v4: 2-44942221-AGGC-A
MyVariant Identifiers: chr2:g.45169361_45169363del (hg19) chr2:g.44942222_44942224del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942232_44942234del , CM000664.2:g.44942232_44942234del GRCh38
NC_000002.11:g.45169371_45169373del , CM000664.1:g.45169371_45169373del GRCh37
NC_000002.10:g.45022875_45022877del NCBI36
NG_016222.1:g.5335_5337del

Transcript Alleles

HGVS Amino-acid change
ENST00000260653.5:c.128_130del MANE Select ENSP00000260653.3:p.Gly43del
ENST00000260653.4:c.128_130del ENSP00000260653.3:p.Gly43del
NM_005413.3:c.128_130del NP_005404.1:p.Gly43del
XM_011533042.1:c.128_130del XP_011531344.1:p.Gly43del
NM_005413.4:c.128_130del MANE Select NP_005404.1:p.Gly43del
Search 100 bp 5'
Search 100 bp 3'