Canonical Allele Identifier: CA1642261

Gene: SIX3

Linked Data

• ClinVar Variation Id: 2083599
• ClinVar RCV Id: RCV003002657 ; RCV003002656
• 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)

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