Canonical Allele Identifier: CA2338594495
Gene: SIX5 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766833_45766835delinsCCT , CM000681.2:g.45766833_45766835delinsCCT GRCh38
NC_000019.9:g.46270091_46270093delinsCCT , CM000681.1:g.46270091_46270093delinsCCT GRCh37
NC_000019.8:g.50961931_50961933delinsCCT NCBI36
NG_012745.1:g.7405_7407delinsAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1124_1126delinsAGG MANE Select ENSP00000316842.4:p.Gln375=
ENST00000317578.6:c.1124_1126delinsAGG ENSP00000316842.4:p.Gln375=
ENST00000560160.1:c.587-724_587-722delinsAGG
ENST00000560168.1:c.*312_*314delinsAGG ENSP00000453189.2:n.*312_*314delinsAGG
ENST00000622857.1:c.16-873_16-871delinsAGG ENSP00000481365.1:n.16-873_16-871delinsAGG
NM_175875.4:c.1124_1126delinsAGG NP_787071.2:p.Gln375=
NM_175875.5:c.1124_1126delinsAGG MANE Select NP_787071.3:p.Gln375=
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