Canonical Allele Identifier: CA2585856591
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2890563
ClinVar RCV Id: RCV003720548
gnomAD v4: 19-45766911-G-GCCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766911_45766912insCCA , CM000681.2:g.45766911_45766912insCCA GRCh38
NC_000019.9:g.46270169_46270170insCCA , CM000681.1:g.46270169_46270170insCCA GRCh37
NC_000019.8:g.50962009_50962010insCCA NCBI36
NG_012745.1:g.7328_7329insTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1047_1048insTGG MANE Select ENSP00000316842.4:p.Ala349_Leu350insTrp
ENST00000317578.6:c.1047_1048insTGG ENSP00000316842.4:p.Ala349_Leu350insTrp
ENST00000560160.1:c.587-801_587-800insTGG
ENST00000560168.1:c.*235_*236insTGG ENSP00000453189.2:n.*235_*236insTGG
ENST00000622857.1:c.16-950_16-949insTGG ENSP00000481365.1:n.16-950_16-949insTGG
NM_175875.4:c.1047_1048insTGG NP_787071.2:p.Ala349_Leu350insTrp
NM_175875.5:c.1047_1048insTGG MANE Select NP_787071.3:p.Ala349_Leu350insTrp
Search 100 bp 5'
Search 100 bp 3'