Canonical Allele Identifier: CA2579739171
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420718del , CM000685.2:g.154420718del GRCh38
NC_000023.10:g.153649057del , CM000685.1:g.153649057del GRCh37
NC_000023.9:g.153302251del NCBI36
NG_009634.1:g.14181del
NG_009634.2:g.14184del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1570del
ENST00000698317.1:n.2186del
ENST00000698318.1:n.1969del
ENST00000698319.1:n.1332del
ENST00000698320.1:n.1220del
ENST00000470127.2:n.1233del
ENST00000475699.6:c.724del ENSP00000419854.3:p.Ala242ArgfsTer13
ENST00000483674.3:n.642del
ENST00000601016.6:c.760del MANE Select ENSP00000469981.1:p.Ala254ArgfsTer13
ENST00000612012.5:c.718del ENSP00000482070.2:p.Ala240ArgfsTer13
ENST00000612460.5:c.670del ENSP00000481037.1:p.Ala224ArgfsTer13
ENST00000614595.2:n.2107del
ENST00000615658.5:n.1349del
ENST00000616020.5:c.772del ENSP00000483636.2:p.Ala258ArgfsTer13
ENST00000617701.5:c.*773del ENSP00000481645.1:n.*773del
ENST00000651139.1:c.-24del ENSP00000498957.1:n.-24del
ENST00000652354.1:c.442del ENSP00000498734.1:p.Ala148ArgfsTer13
ENST00000652358.1:c.553del ENSP00000498464.1:p.Ala185ArgfsTer13
ENST00000652390.1:c.679del ENSP00000498858.1:p.Ala227ArgfsTer13
ENST00000652476.1:n.1426del
ENST00000652644.1:c.373del ENSP00000498496.1:p.Ala125ArgfsTer13
ENST00000652682.1:c.817del ENSP00000498288.1:p.Ala273ArgfsTer13
ENST00000652685.1:n.1113del
ENST00000369776.8:c.670del ENSP00000358791.4:p.Ala224ArgfsTer13
ENST00000426231.5:c.757del
ENST00000475699.5:c.718del ENSP00000419854.2:p.Ala240ArgfsTer13
ENST00000494912.5:n.1449del
ENST00000498029.1:n.218del
ENST00000601016.5:c.760del ENSP00000469981.1:p.Ala254ArgfsTer13
ENST00000612460.4:c.670del ENSP00000481037.1:p.Ala224ArgfsTer13
ENST00000613002.4:c.628del ENSP00000478154.1:p.Ala210ArgfsTer13
ENST00000615986.4:c.*488del ENSP00000480133.1:n.*488del
NM_000116.4:c.760del NP_000107.1:p.Ala254ArgfsTer13
NM_001303465.1:c.772del NP_001290394.1:p.Ala258ArgfsTer13
NM_181311.3:c.670del NP_851828.1:p.Ala224ArgfsTer13
NM_181312.3:c.718del NP_851829.1:p.Ala240ArgfsTer13
NM_181313.3:c.628del NP_851830.1:p.Ala210ArgfsTer13
NR_024048.2:n.1102del
XM_006724836.1:c.814del XP_006724899.1:p.Ala272ArgfsTer13
XM_006724837.1:c.799del XP_006724900.1:p.Ala267ArgfsTer13
XM_006724839.1:c.682del XP_006724902.1:p.Ala228ArgfsTer13
XM_006724841.2:c.553del XP_006724904.1:p.Ala185ArgfsTer13
XM_006724842.2:c.463del XP_006724905.1:p.Ala155ArgfsTer13
XM_011531189.1:c.601del XP_011529491.1:p.Ala201ArgfsTer13
XM_011531190.1:c.553del XP_011529492.1:p.Ala185ArgfsTer13
XM_011531191.1:c.484del XP_011529493.1:p.Ala162ArgfsTer13
XM_011531192.1:c.481del XP_011529494.1:p.Ala161ArgfsTer13
XR_938511.1:n.1108del
XM_006724841.4:c.553del XP_006724904.1:p.Ala185ArgfsTer13
XM_006724842.4:c.463del XP_006724905.1:p.Ala155ArgfsTer13
XM_011531191.2:c.484del XP_011529493.1:p.Ala162ArgfsTer13
XM_017029761.1:c.745del XP_016885250.1:p.Ala249ArgfsTer13
XM_017029762.1:c.724del XP_016885251.1:p.Ala242ArgfsTer13
XM_017029763.1:c.547del XP_016885252.1:p.Ala183ArgfsTer13
XM_017029764.1:c.481del XP_016885253.1:p.Ala161ArgfsTer13
XM_017029765.2:c.421del XP_016885254.1:p.Ala141ArgfsTer13
XM_024452431.1:c.718del XP_024308199.1:p.Ala240ArgfsTer13
NM_000116.5:c.760del MANE Select NP_000107.1:p.Ala254ArgfsTer13
NM_001303465.2:c.772del NP_001290394.1:p.Ala258ArgfsTer13
NM_181311.4:c.670del NP_851828.1:p.Ala224ArgfsTer13
NM_181312.4:c.718del NP_851829.1:p.Ala240ArgfsTer13
NM_181313.4:c.628del NP_851830.1:p.Ala210ArgfsTer13
NR_024048.3:n.1081del