Canonical Allele Identifier: CA2140897018
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644956_60644957delinsAT , CM000676.2:g.60644956_60644957delinsAT GRCh38
NC_000014.8:g.61111674_61111675delinsAT , CM000676.1:g.61111674_61111675delinsAT GRCh37
NC_000014.7:g.60181427_60181428delinsAT NCBI36
NG_008231.1:g.9481_9482delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1326_*1327delinsAT MANE Select ENSP00000494686.1:n.*1326_*1327delinsAT
ENST00000247182.6:c.*1326_*1327delinsAT ENSP00000247182.5:n.*1326_*1327delinsAT
ENST00000554986.2:c.*1326_*1327delinsAT ENSP00000452700.2:n.*1326_*1327delinsAT
ENST00000555955.3:n.2818_2819delinsAT
NM_005982.3:c.*1326_*1327delinsAT NP_005973.1:n.*1326_*1327delinsAT
XM_017021602.2:c.*1600_*1601delinsAT XP_016877091.1:n.*1600_*1601delinsAT
NM_005982.4:c.*1326_*1327delinsAT MANE Select NP_005973.1:n.*1326_*1327delinsAT