Canonical Allele Identifier: CA2140897416
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60645513_60645514delinsAT , CM000676.2:g.60645513_60645514delinsAT GRCh38
NC_000014.8:g.61112231_61112232delinsAT , CM000676.1:g.61112231_61112232delinsAT GRCh37
NC_000014.7:g.60181984_60181985delinsAT NCBI36
NG_008231.1:g.8924_8925delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*769_*770delinsAT MANE Select ENSP00000494686.1:n.*769_*770delinsAT
ENST00000247182.6:c.*769_*770delinsAT ENSP00000247182.5:n.*769_*770delinsAT
ENST00000553535.2:n.1312_1313delinsAT
ENST00000554986.2:c.*769_*770delinsAT ENSP00000452700.2:n.*769_*770delinsAT
ENST00000555955.3:n.2261_2262delinsAT
NM_005982.3:c.*769_*770delinsAT NP_005973.1:n.*769_*770delinsAT
XM_017021602.2:c.*1043_*1044delinsAT XP_016877091.1:n.*1043_*1044delinsAT
NM_005982.4:c.*769_*770delinsAT MANE Select NP_005973.1:n.*769_*770delinsAT