Canonical Allele Identifier: CA658682657
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420069del , CM000685.2:g.154420069del GRCh38
NC_000023.10:g.153648408del , CM000685.1:g.153648408del GRCh37
NC_000023.9:g.153301602del NCBI36
NG_009634.1:g.13532del
NG_009634.2:g.13535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1431del
ENST00000698317.1:n.2047del
ENST00000698318.1:n.1830del
ENST00000698319.1:n.1193del
ENST00000698320.1:n.1081del
ENST00000470127.2:n.1094del
ENST00000475699.6:c.585del ENSP00000419854.3:p.Ile196SerfsTer10
ENST00000483674.3:n.503del
ENST00000601016.6:c.621del MANE Select ENSP00000469981.1:p.Ile208SerfsTer10
ENST00000612012.5:c.579del ENSP00000482070.2:p.Ile194SerfsTer10
ENST00000612460.5:c.531del ENSP00000481037.1:p.Ile178SerfsTer10
ENST00000614595.2:n.1968del
ENST00000615658.5:n.1210del
ENST00000616020.5:c.633del ENSP00000483636.2:p.Ile212SerfsTer10
ENST00000617701.5:c.*634del ENSP00000481645.1:n.*634del
ENST00000652354.1:c.303del ENSP00000498734.1:p.Ile102SerfsTer10
ENST00000652358.1:c.414del ENSP00000498464.1:p.Ile139SerfsTer10
ENST00000652390.1:c.540del ENSP00000498858.1:p.Ile181SerfsTer10
ENST00000652476.1:n.1287del
ENST00000652644.1:c.234del ENSP00000498496.1:p.Ile79SerfsTer10
ENST00000652682.1:c.678del ENSP00000498288.1:p.Ile227SerfsTer10
ENST00000652685.1:n.974del
ENST00000369776.8:c.414del ENSP00000358791.4:p.Ile139SerfsTer?
ENST00000426231.5:c.618del
ENST00000439735.2:c.528del ENSP00000398193.1:p.Ile177SerfsTer?
ENST00000470127.1:n.200del
ENST00000475699.5:c.579del ENSP00000419854.2:p.Ile194SerfsTer10
ENST00000494912.5:n.1310del
ENST00000498029.1:n.79del
ENST00000601016.5:c.621del ENSP00000469981.1:p.Ile208SerfsTer10
ENST00000612012.4:c.585del ENSP00000482070.1:p.Ile196SerfsTer?
ENST00000612460.4:c.531del ENSP00000481037.1:p.Ile178SerfsTer10
ENST00000613002.4:c.489del ENSP00000478154.1:p.Ile164SerfsTer10
ENST00000615658.4:n.1310del
ENST00000615986.4:c.*349del ENSP00000480133.1:n.*349del
ENST00000620808.4:c.*207del ENSP00000479311.1:n.*207del
NM_000116.4:c.621del NP_000107.1:p.Ile208SerfsTer10
NM_001303465.1:c.633del NP_001290394.1:p.Ile212SerfsTer10
NM_181311.3:c.531del NP_851828.1:p.Ile178SerfsTer10
NM_181312.3:c.579del NP_851829.1:p.Ile194SerfsTer10
NM_181313.3:c.489del NP_851830.1:p.Ile164SerfsTer10
NR_024048.2:n.963del
XM_006724836.1:c.675del XP_006724899.1:p.Ile226SerfsTer10
XM_006724837.1:c.543del XP_006724900.1:p.Ile182SerfsTer?
XM_006724839.1:c.543del XP_006724902.1:p.Ile182SerfsTer10
XM_006724841.2:c.414del XP_006724904.1:p.Ile139SerfsTer10
XM_006724842.2:c.324del XP_006724905.1:p.Ile109SerfsTer10
XM_011531189.1:c.462del XP_011529491.1:p.Ile155SerfsTer10
XM_011531190.1:c.414del XP_011529492.1:p.Ile139SerfsTer10
XM_011531191.1:c.345del XP_011529493.1:p.Ile116SerfsTer10
XM_011531192.1:c.342del XP_011529494.1:p.Ile115SerfsTer10
XR_938511.1:n.969del
XM_006724841.4:c.414del XP_006724904.1:p.Ile139SerfsTer10
XM_006724842.4:c.324del XP_006724905.1:p.Ile109SerfsTer10
XM_011531191.2:c.345del XP_011529493.1:p.Ile116SerfsTer10
XM_017029761.1:c.489del XP_016885250.1:p.Ile164SerfsTer?
XM_017029762.1:c.585del XP_016885251.1:p.Ile196SerfsTer10
XM_017029763.1:c.408del XP_016885252.1:p.Ile137SerfsTer10
XM_017029764.1:c.342del XP_016885253.1:p.Ile115SerfsTer10
XM_017029765.2:c.282del XP_016885254.1:p.Ile95SerfsTer10
XM_024452431.1:c.462del XP_024308199.1:p.Ile155SerfsTer?
NM_000116.5:c.621del MANE Select NP_000107.1:p.Ile208SerfsTer10
NM_001303465.2:c.633del NP_001290394.1:p.Ile212SerfsTer10
NM_181311.4:c.531del NP_851828.1:p.Ile178SerfsTer10
NM_181312.4:c.579del NP_851829.1:p.Ile194SerfsTer10
NM_181313.4:c.489del NP_851830.1:p.Ile164SerfsTer10
NR_024048.3:n.942del