Canonical Allele Identifier: CA2695237049

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420221_154420222insAGTA , CM000685.2:g.154420221_154420222insAGTA	GRCh38
NC_000023.10:g.153648560_153648561insAGTA , CM000685.1:g.153648560_153648561insAGTA	GRCh37
NC_000023.9:g.153301754_153301755insAGTA	NCBI36
NG_009634.1:g.13684_13685insAGTA
NG_009634.2:g.13687_13688insAGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1466_1467insAGTA
ENST00000698317.1:n.2082_2083insAGTA
ENST00000698318.1:n.1865_1866insAGTA
ENST00000698319.1:n.1228_1229insAGTA
ENST00000698320.1:n.1116_1117insAGTA
ENST00000470127.2:n.1129_1130insAGTA
ENST00000475699.6:c.620_621insAGTA	ENSP00000419854.3:p.Asp207GlufsTer6
ENST00000483674.3:n.538_539insAGTA
ENST00000601016.6:c.656_657insAGTA MANE Select	ENSP00000469981.1:p.Asp219GlufsTer6
ENST00000612012.5:c.614_615insAGTA	ENSP00000482070.2:p.Asp205GlufsTer6
ENST00000612460.5:c.566_567insAGTA	ENSP00000481037.1:p.Asp189GlufsTer6
ENST00000614595.2:n.2003_2004insAGTA
ENST00000615658.5:n.1245_1246insAGTA
ENST00000616020.5:c.668_669insAGTA	ENSP00000483636.2:p.Asp223GlufsTer6
ENST00000617701.5:c.*669_*670insAGTA	ENSP00000481645.1:n.*669_*670insAGTA
ENST00000652354.1:c.338_339insAGTA	ENSP00000498734.1:p.Asp113GlufsTer6
ENST00000652358.1:c.449_450insAGTA	ENSP00000498464.1:p.Asp150GlufsTer6
ENST00000652390.1:c.575_576insAGTA	ENSP00000498858.1:p.Asp192GlufsTer6
ENST00000652476.1:n.1322_1323insAGTA
ENST00000652644.1:c.269_270insAGTA	ENSP00000498496.1:p.Asp90GlufsTer6
ENST00000652682.1:c.713_714insAGTA	ENSP00000498288.1:p.Asp238GlufsTer6
ENST00000652685.1:n.1009_1010insAGTA
ENST00000369776.8:c.566_567insAGTA	ENSP00000358791.4:p.Asp189GlufsTer6
ENST00000426231.5:c.653_654insAGTA
ENST00000475699.5:c.614_615insAGTA	ENSP00000419854.2:p.Asp205GlufsTer6
ENST00000494912.5:n.1345_1346insAGTA
ENST00000498029.1:n.114_115insAGTA
ENST00000601016.5:c.656_657insAGTA	ENSP00000469981.1:p.Asp219GlufsTer6
ENST00000612460.4:c.566_567insAGTA	ENSP00000481037.1:p.Asp189GlufsTer6
ENST00000613002.4:c.524_525insAGTA	ENSP00000478154.1:p.Asp175GlufsTer6
ENST00000615986.4:c.*384_*385insAGTA	ENSP00000480133.1:n.*384_*385insAGTA
NM_000116.4:c.656_657insAGTA	NP_000107.1:p.Asp219GlufsTer6
NM_001303465.1:c.668_669insAGTA	NP_001290394.1:p.Asp223GlufsTer6
NM_181311.3:c.566_567insAGTA	NP_851828.1:p.Asp189GlufsTer6
NM_181312.3:c.614_615insAGTA	NP_851829.1:p.Asp205GlufsTer6
NM_181313.3:c.524_525insAGTA	NP_851830.1:p.Asp175GlufsTer6
NR_024048.2:n.998_999insAGTA
XM_006724836.1:c.710_711insAGTA	XP_006724899.1:p.Asp237GlufsTer6
XM_006724837.1:c.695_696insAGTA	XP_006724900.1:p.Asp232GlufsTer6
XM_006724839.1:c.578_579insAGTA	XP_006724902.1:p.Asp193GlufsTer6
XM_006724841.2:c.449_450insAGTA	XP_006724904.1:p.Asp150GlufsTer6
XM_006724842.2:c.359_360insAGTA	XP_006724905.1:p.Asp120GlufsTer6
XM_011531189.1:c.497_498insAGTA	XP_011529491.1:p.Asp166GlufsTer6
XM_011531190.1:c.449_450insAGTA	XP_011529492.1:p.Asp150GlufsTer6
XM_011531191.1:c.380_381insAGTA	XP_011529493.1:p.Asp127GlufsTer6
XM_011531192.1:c.377_378insAGTA	XP_011529494.1:p.Asp126GlufsTer6
XR_938511.1:n.1004_1005insAGTA
XM_006724841.4:c.449_450insAGTA	XP_006724904.1:p.Asp150GlufsTer6
XM_006724842.4:c.359_360insAGTA	XP_006724905.1:p.Asp120GlufsTer6
XM_011531191.2:c.380_381insAGTA	XP_011529493.1:p.Asp127GlufsTer6
XM_017029761.1:c.641_642insAGTA	XP_016885250.1:p.Asp214GlufsTer6
XM_017029762.1:c.620_621insAGTA	XP_016885251.1:p.Asp207GlufsTer6
XM_017029763.1:c.443_444insAGTA	XP_016885252.1:p.Asp148GlufsTer6
XM_017029764.1:c.377_378insAGTA	XP_016885253.1:p.Asp126GlufsTer6
XM_017029765.2:c.317_318insAGTA	XP_016885254.1:p.Asp106GlufsTer6
XM_024452431.1:c.614_615insAGTA	XP_024308199.1:p.Asp205GlufsTer6
NM_000116.5:c.656_657insAGTA MANE Select	NP_000107.1:p.Asp219GlufsTer6
NM_001303465.2:c.668_669insAGTA	NP_001290394.1:p.Asp223GlufsTer6
NM_181311.4:c.566_567insAGTA	NP_851828.1:p.Asp189GlufsTer6
NM_181312.4:c.614_615insAGTA	NP_851829.1:p.Asp205GlufsTer6
NM_181313.4:c.524_525insAGTA	NP_851830.1:p.Asp175GlufsTer6
NR_024048.3:n.977_978insAGTA