Canonical Allele Identifier: CA2338594590
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766998_45767001delinsTGGA , CM000681.2:g.45766998_45767001delinsTGGA GRCh38
NC_000019.9:g.46270256_46270259delinsTGGA , CM000681.1:g.46270256_46270259delinsTGGA GRCh37
NC_000019.8:g.50962096_50962099delinsTGGA NCBI36
NG_012745.1:g.7239_7242delinsTCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.958_961delinsTCCA MANE Select ENSP00000316842.4:p.Ser320=
ENST00000317578.6:c.958_961delinsTCCA ENSP00000316842.4:p.Ser320=
ENST00000560160.1:c.587-890_587-887delinsTCCA
ENST00000560168.1:c.*146_*149delinsTCCA ENSP00000453189.2:n.*146_*149delinsTCCA
ENST00000622857.1:c.16-1039_16-1036delinsTCCA ENSP00000481365.1:n.16-1039_16-1036delinsTCCA
NM_175875.4:c.958_961delinsTCCA NP_787071.2:p.Ser320=
NM_175875.5:c.958_961delinsTCCA MANE Select NP_787071.3:p.Ser320=