Canonical Allele Identifier: CA2338594415
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766705_45766706delinsTC , CM000681.2:g.45766705_45766706delinsTC GRCh38
NC_000019.9:g.46269963_46269964delinsTC , CM000681.1:g.46269963_46269964delinsTC GRCh37
NC_000019.8:g.50961803_50961804delinsTC NCBI36
NG_012745.1:g.7534_7535delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1253_1254delinsGA MANE Select ENSP00000316842.4:p.Gly418=
ENST00000317578.6:c.1253_1254delinsGA ENSP00000316842.4:p.Gly418=
ENST00000560160.1:c.587-595_587-594delinsGA
ENST00000560168.1:c.*441_*442delinsGA ENSP00000453189.2:n.*441_*442delinsGA
ENST00000622857.1:c.16-744_16-743delinsGA ENSP00000481365.1:n.16-744_16-743delinsGA
NM_175875.4:c.1253_1254delinsGA NP_787071.2:p.Gly418=
NM_175875.5:c.1253_1254delinsGA MANE Select NP_787071.3:p.Gly418=