Canonical Allele Identifier: CA308238131
Gene: TIMM50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.39482676del , CM000681.2:g.39482676del GRCh38
NC_000019.9:g.39973316del , CM000681.1:g.39973316del GRCh37
NC_000019.8:g.44665156del NCBI36
NG_051245.1:g.7265del

Transcript Alleles

HGVS Amino-acid Change
ENST00000607714.6:c.260-209del MANE Select ENSP00000475531.1:n.260-209del
ENST00000314349.8:c.569-209del ENSP00000318115.3:n.569-209del
ENST00000544017.5:c.569-209del ENSP00000445806.2:n.569-209del
ENST00000594583.2:c.244-209del
ENST00000595286.1:n.256-209del
ENST00000597666.5:c.109-209del ENSP00000472723.2:n.109-209del
ENST00000597782.5:c.232-209del
ENST00000598125.5:n.268-209del
ENST00000599733.5:c.186-209del
ENST00000599794.5:c.108+1715del ENSP00000472524.2:n.108+1715del
ENST00000601358.5:c.260-209del ENSP00000472476.2:n.260-209del
ENST00000601403.5:c.259+643del ENSP00000472184.2:n.259+643del
ENST00000602028.5:c.258-209del
ENST00000602265.5:c.186-209del
ENST00000607714.5:c.260-209del ENSP00000475531.1:n.260-209del
NM_001001563.1:c.569-209del NP_001001563.1:n.569-209del
XM_011527491.1:c.224-209del XP_011525793.1:n.224-209del
NM_001001563.4:c.260-209del NP_001001563.2:n.260-209del
NM_001329559.1:c.-21-209del NP_001316488.1:n.-21-209del
XM_011527491.3:c.224-209del XP_011525793.1:n.224-209del
NM_001001563.5:c.260-209del MANE Select NP_001001563.2:n.260-209del
NM_001329559.2:c.-21-209del NP_001316488.1:n.-21-209del