Canonical Allele Identifier: CA2338594532
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766896_45766920delinsTGGAGGCCTCGCCCAGGGCCAGGCC , CM000681.2:g.45766896_45766920delinsTGGAGGCCTCGCCCAGGGCCAGGCC GRCh38
NC_000019.9:g.46270154_46270178delinsTGGAGGCCTCGCCCAGGGCCAGGCC , CM000681.1:g.46270154_46270178delinsTGGAGGCCTCGCCCAGGGCCAGGCC GRCh37
NC_000019.8:g.50961994_50962018delinsTGGAGGCCTCGCCCAGGGCCAGGCC NCBI36
NG_012745.1:g.7320_7344delinsGGCCTGGCCCTGGGCGAGGCCTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1039_1063delinsGGCCTGGCCCTGGGCGAGGCCTCCA MANE Select ENSP00000316842.4:p.Gly347=
ENST00000317578.6:c.1039_1063delinsGGCCTGGCCCTGGGCGAGGCCTCCA ENSP00000316842.4:p.Gly347=
ENST00000560160.1:c.587-809_587-785delinsGGCCTGGCCCTGGGCGAGGCCTCCA
ENST00000560168.1:c.*227_*251delinsGGCCTGGCCCTGGGCGAGGCCTCCA ENSP00000453189.2:n.*227_*251delinsGGCCTGGCCCTGGGCGAGGCCTCCA
ENST00000622857.1:c.16-958_16-934delinsGGCCTGGCCCTGGGCGAGGCCTCCA ENSP00000481365.1:n.16-958_16-934delinsGGCCTGGCCCTGGGCGAGGCCT...
NM_175875.4:c.1039_1063delinsGGCCTGGCCCTGGGCGAGGCCTCCA NP_787071.2:p.Gly347=
NM_175875.5:c.1039_1063delinsGGCCTGGCCCTGGGCGAGGCCTCCA MANE Select NP_787071.3:p.Gly347=
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