Canonical Allele Identifier: CA238818

Gene: SIX3

Linked Data

• ClinVar Variation Id: 193312
• ClinVar RCV Id: RCV000173374 ; RCV002054049
• dbSNP Id: rs555285206
• ExAC: 2:45169429 A / AGGC
• gnomAD v2: 2-45169429-A-AGGC
• gnomAD v3: 2-44942290-A-AGGC
• gnomAD v4: 2-44942290-A-AGGC
• MyVariant Identifiers: chr2:g.45169448_45169450dupGGC (hg19) ; chr2:g.45169438_45169439insGGC (hg19) ; chr2:g.45169432_45169433insGGC (hg19) ; chr2:g.45169429_45169430insGGC (hg19) ; chr2:g.44942309_44942311dupGGC (hg38) ; chr2:g.44942299_44942300insGGC (hg38) ; chr2:g.44942290_44942291insGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942309_44942311dup , CM000664.2:g.44942309_44942311dup	GRCh38
NC_000002.11:g.45169448_45169450dup , CM000664.1:g.45169448_45169450dup	GRCh37
NC_000002.10:g.45022952_45022954dup	NCBI36
NG_016222.1:g.5412_5414dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260653.5:c.205_207dup MANE Select	ENSP00000260653.3:p.Gly69_Ser70insGly
ENST00000260653.4:c.205_207dup	ENSP00000260653.3:p.Gly69_Ser70insGly
NM_005413.3:c.205_207dup	NP_005404.1:p.Gly69_Ser70insGly
XM_011533042.1:c.205_207dup	XP_011531344.1:p.Gly69_Ser70insGly
NM_005413.4:c.205_207dup MANE Select	NP_005404.1:p.Gly69_Ser70insGly