Canonical Allele Identifier: CA2499221927
Community Standard Title: NM_018838.5(NDUFA12):c.395del (p.Lys132ArgfsTer?)
Gene: NDUFA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.94971485del , CM000674.2:g.94971485del GRCh38
NC_000012.11:g.95365261del , CM000674.1:g.95365261del GRCh37
NC_000012.10:g.93889392del NCBI36
NG_032672.1:g.37231del

Transcript Alleles

HGVS Amino-acid Change
NM_018838.5:c.395del MANE Select NP_061326.1:p.Lys132ArgfsTer?
ENST00000327772.7:c.395del MANE Select ENSP00000330737.2:p.Lys132ArgfsTer?
NM_001258338.1:c.*115del NP_001245267.1:n.*115del
NM_001258338.2:c.*115del NP_001245267.1:n.*115del
NM_018838.4:c.395del NP_061326.1:p.Lys132ArgfsTer?
ENST00000327772.6:c.395del ENSP00000330737.2:p.Lys132ArgfsTer?
ENST00000538372.6:n.322del
ENST00000538372.7:n.1647del
ENST00000546788.1:c.*190del ENSP00000448545.1:n.*190del
ENST00000547157.1:c.105del ENSP00000448846.1:p.Glu36LysfsTer14
ENST00000547986.5:c.*115del ENSP00000450130.1:n.*115del
ENST00000550187.5:n.366del
ENST00000551991.5:c.396del ENSP00000450096.1:n.396del
ENST00000552205.5:c.149+31256del
ENST00000552205.6:c.257+22687del ENSP00000449144.2:n.257+22687del
ENST00000682903.1:c.1821del ENSP00000507486.1:n.1821del
ENST00000684171.1:c.*111del ENSP00000506808.1:n.*111del
ENST00000684522.1:n.972del
ENST00000684558.1:c.*283del ENSP00000507784.1:n.*283del