Canonical Allele Identifier: CA2140896911
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644806_60644814delinsCTACATGAT , CM000676.2:g.60644806_60644814delinsCTACATGAT GRCh38
NC_000014.8:g.61111524_61111532delinsCTACATGAT , CM000676.1:g.61111524_61111532delinsCTACATGAT GRCh37
NC_000014.7:g.60181277_60181285delinsCTACATGAT NCBI36
NG_008231.1:g.9624_9632delinsATCATGTAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1469_*1477delinsATCATGTAG MANE Select ENSP00000494686.1:n.*1469_*1477delinsATCATGTAG
ENST00000247182.6:c.*1469_*1477delinsATCATGTAG ENSP00000247182.5:n.*1469_*1477delinsATCATGTAG
ENST00000554986.2:c.*1469_*1477delinsATCATGTAG ENSP00000452700.2:n.*1469_*1477delinsATCATGTAG
NM_005982.3:c.*1469_*1477delinsATCATGTAG NP_005973.1:n.*1469_*1477delinsATCATGTAG
XM_017021602.2:c.*1743_*1751delinsATCATGTAG XP_016877091.1:n.*1743_*1751delinsATCATGTAG
NM_005982.4:c.*1469_*1477delinsATCATGTAG MANE Select NP_005973.1:n.*1469_*1477delinsATCATGTAG