Canonical Allele Identifier: CA2838371024
Gene: MT1E HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56626814del , CM000678.2:g.56626814del GRCh38
NC_000016.9:g.56660726del , CM000678.1:g.56660726del GRCh37
NC_000016.8:g.55218227del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000330439.7:c.377del MANE Select ENSP00000328137.6:p.Cys126SerfsTer?
ENST00000306061.10:c.95-66del ENSP00000307706.5:n.95-66del
ENST00000330439.6:c.377del ENSP00000328137.6:p.Cys126SerfsTer?
ENST00000568293.1:c.29-66del ENSP00000457516.1:n.29-66del
NM_175617.3:c.95-66del NP_783316.2:n.95-66del
XM_005255956.3:c.377del XP_005256013.1:p.Cys126SerfsTer?
NM_001363555.1:c.377del NP_001350484.1:p.Cys126SerfsTer?
NM_001363555.2:c.377del MANE Select NP_001350484.1:p.Cys126SerfsTer?
NM_175617.4:c.95-66del NP_783316.2:n.95-66del