Canonical Allele Identifier: CA2140897325
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645400_60645401delinsGA , CM000676.2:g.60645400_60645401delinsGA GRCh38
NC_000014.8:g.61112118_61112119delinsGA , CM000676.1:g.61112118_61112119delinsGA GRCh37
NC_000014.7:g.60181871_60181872delinsGA NCBI36
NG_008231.1:g.9037_9038delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*882_*883delinsTC MANE Select ENSP00000494686.1:n.*882_*883delinsTC
ENST00000247182.6:c.*882_*883delinsTC ENSP00000247182.5:n.*882_*883delinsTC
ENST00000553535.2:n.1425_1426delinsTC
ENST00000554986.2:c.*882_*883delinsTC ENSP00000452700.2:n.*882_*883delinsTC
ENST00000555955.3:n.2374_2375delinsTC
NM_005982.3:c.*882_*883delinsTC NP_005973.1:n.*882_*883delinsTC
XM_017021602.2:c.*1156_*1157delinsTC XP_016877091.1:n.*1156_*1157delinsTC
NM_005982.4:c.*882_*883delinsTC MANE Select NP_005973.1:n.*882_*883delinsTC