Canonical Allele Identifier: CA2466675308
Gene: TAFAZZIN HGNC NCBI

Linked Data

dbSNP Id: rs2068380302

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413392_154413393del , CM000685.2:g.154413392_154413393del GRCh38
NC_000023.10:g.153641729_153641730del , CM000685.1:g.153641729_153641730del GRCh37
NC_000023.9:g.153294923_153294924del NCBI36
NG_009634.1:g.6853_6854del
NG_012884.2:g.3698_3699del
NG_009634.2:g.6858_6859del

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.818+34_818+35del
ENST00000698235.1:n.358+53_358+54del
ENST00000698317.1:n.1344+34_1344+35del
ENST00000698318.1:n.1217+22_1217+23del
ENST00000470127.2:n.473_474del
ENST00000475699.6:c.339-90_339-89del ENSP00000419854.3:n.339-90_339-89del
ENST00000476800.2:n.1381_1382del
ENST00000483674.3:n.176-90_176-89del
ENST00000601016.6:c.285-90_285-89del MANE Select ENSP00000469981.1:n.285-90_285-89del
ENST00000612012.5:c.285-90_285-89del ENSP00000482070.2:n.285-90_285-89del
ENST00000612460.5:c.285-90_285-89del ENSP00000481037.1:n.285-90_285-89del
ENST00000614595.2:n.1721+53_1721+54del
ENST00000615658.5:n.598-90_598-89del
ENST00000616020.5:c.339-90_339-89del ENSP00000483636.2:n.339-90_339-89del
ENST00000617701.5:c.*102+34_*102+35del ENSP00000481645.1:n.*102+34_*102+35del
ENST00000621647.2:n.477_478del
ENST00000652354.1:c.9-90_9-89del ENSP00000498734.1:n.9-90_9-89del
ENST00000652358.1:c.77+53_77+54del ENSP00000498464.1:n.77+53_77+54del
ENST00000652390.1:c.204-90_204-89del ENSP00000498858.1:n.204-90_204-89del
ENST00000652476.1:n.585_586del
ENST00000652682.1:c.285-90_285-89del ENSP00000498288.1:n.285-90_285-89del
ENST00000652685.1:n.442+34_442+35del
ENST00000369776.8:c.210-90_210-89del ENSP00000358791.4:n.210-90_210-89del
ENST00000426231.5:c.200+40_200+41del
ENST00000439735.2:c.285-90_285-89del ENSP00000398193.1:n.285-90_285-89del
ENST00000475699.5:c.285-90_285-89del ENSP00000419854.2:n.285-90_285-89del
ENST00000476679.5:n.198-90_198-89del
ENST00000476800.1:n.302_303del
ENST00000479875.1:n.314-90_314-89del
ENST00000483780.5:n.59-90_59-89del
ENST00000601016.5:c.285-90_285-89del ENSP00000469981.1:n.285-90_285-89del
ENST00000612012.4:c.339-90_339-89del ENSP00000482070.1:n.339-90_339-89del
ENST00000612460.4:c.285-90_285-89del ENSP00000481037.1:n.285-90_285-89del
ENST00000613002.4:c.285-90_285-89del ENSP00000478154.1:n.285-90_285-89del
ENST00000613634.4:n.605-90_605-89del
ENST00000615658.4:n.697+53_697+54del
ENST00000615986.4:c.*102+34_*102+35del ENSP00000480133.1:n.*102+34_*102+35del
ENST00000616020.4:c.339-90_339-89del ENSP00000483636.1:n.339-90_339-89del
ENST00000617701.4:c.*114+22_*114+23del ENSP00000481645.1:n.*114+22_*114+23del
ENST00000620808.4:c.*83+53_*83+54del ENSP00000479311.1:n.*83+53_*83+54del
ENST00000621647.1:n.709_710del
NM_000116.4:c.285-90_285-89del NP_000107.1:n.285-90_285-89del
NM_001303465.1:c.339-90_339-89del NP_001290394.1:n.339-90_339-89del
NM_181311.3:c.285-90_285-89del NP_851828.1:n.285-90_285-89del
NM_181312.3:c.285-90_285-89del NP_851829.1:n.285-90_285-89del
NM_181313.3:c.285-90_285-89del NP_851830.1:n.285-90_285-89del
NR_024048.2:n.716+34_716+35del
XM_006724836.1:c.339-90_339-89del XP_006724899.1:n.339-90_339-89del
XM_006724837.1:c.339-90_339-89del XP_006724900.1:n.339-90_339-89del
XM_006724839.1:c.339-90_339-89del XP_006724902.1:n.339-90_339-89del
XM_006724841.2:c.77+53_77+54del XP_006724904.1:n.77+53_77+54del
XM_006724842.2:c.77+53_77+54del XP_006724905.1:n.77+53_77+54del
XM_011531189.1:c.339-90_339-89del XP_011529491.1:n.339-90_339-89del
XM_011531190.1:c.77+53_77+54del XP_011529492.1:n.77+53_77+54del
XM_011531191.1:c.9-90_9-89del XP_011529493.1:n.9-90_9-89del
XM_011531192.1:c.5+22_5+23del XP_011529494.1:n.5+22_5+23del
XR_938511.1:n.642-90_642-89del
XM_006724841.4:c.77+53_77+54del XP_006724904.1:n.77+53_77+54del
XM_006724842.4:c.77+53_77+54del XP_006724905.1:n.77+53_77+54del
XM_011531191.2:c.9-90_9-89del XP_011529493.1:n.9-90_9-89del
XM_017029761.1:c.285-90_285-89del XP_016885250.1:n.285-90_285-89del
XM_017029762.1:c.339-90_339-89del XP_016885251.1:n.339-90_339-89del
XM_017029763.1:c.285-90_285-89del XP_016885252.1:n.285-90_285-89del
XM_017029764.1:c.5+22_5+23del XP_016885253.1:n.5+22_5+23del
XM_017029765.2:c.77+53_77+54del XP_016885254.1:n.77+53_77+54del
XM_024452431.1:c.339-90_339-89del XP_024308199.1:n.339-90_339-89del
NM_000116.5:c.285-90_285-89del MANE Select NP_000107.1:n.285-90_285-89del
NM_001303465.2:c.339-90_339-89del NP_001290394.1:n.339-90_339-89del
NM_181311.4:c.285-90_285-89del NP_851828.1:n.285-90_285-89del
NM_181312.4:c.285-90_285-89del NP_851829.1:n.285-90_285-89del
NM_181313.4:c.285-90_285-89del NP_851830.1:n.285-90_285-89del
NR_024048.3:n.695+34_695+35del