Canonical Allele Identifier: CA2695237054

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420683_154420709del , CM000685.2:g.154420683_154420709del	GRCh38
NC_000023.10:g.153649022_153649048del , CM000685.1:g.153649022_153649048del	GRCh37
NC_000023.9:g.153302216_153302242del	NCBI36
NG_009634.1:g.14146_14172del
NG_009634.2:g.14149_14175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1535_1561del
ENST00000698317.1:n.2151_2177del
ENST00000698318.1:n.1934_1960del
ENST00000698319.1:n.1297_1323del
ENST00000698320.1:n.1185_1211del
ENST00000470127.2:n.1198_1224del
ENST00000475699.6:c.689_715del	ENSP00000419854.3:p.Pro230_Glu238del
ENST00000483674.3:n.607_633del
ENST00000601016.6:c.725_751del MANE Select	ENSP00000469981.1:p.Pro242_Glu250del
ENST00000612012.5:c.683_709del	ENSP00000482070.2:p.Pro228_Glu236del
ENST00000612460.5:c.635_661del	ENSP00000481037.1:p.Pro212_Glu220del
ENST00000614595.2:n.2072_2098del
ENST00000615658.5:n.1314_1340del
ENST00000616020.5:c.737_763del	ENSP00000483636.2:p.Pro246_Glu254del
ENST00000617701.5:c.*738_*764del	ENSP00000481645.1:n.*738_*764del
ENST00000651139.1:c.-59_-33del	ENSP00000498957.1:n.-59_-33del
ENST00000652354.1:c.407_433del	ENSP00000498734.1:p.Pro136_Glu144del
ENST00000652358.1:c.518_544del	ENSP00000498464.1:p.Pro173_Glu181del
ENST00000652390.1:c.644_670del	ENSP00000498858.1:p.Pro215_Glu223del
ENST00000652476.1:n.1391_1417del
ENST00000652644.1:c.338_364del	ENSP00000498496.1:p.Pro113_Glu121del
ENST00000652682.1:c.782_808del	ENSP00000498288.1:p.Pro261_Glu269del
ENST00000652685.1:n.1078_1104del
ENST00000369776.8:c.635_661del	ENSP00000358791.4:p.Pro212_Glu220del
ENST00000426231.5:c.722_748del
ENST00000475699.5:c.683_709del	ENSP00000419854.2:p.Pro228_Glu236del
ENST00000494912.5:n.1414_1440del
ENST00000498029.1:n.183_209del
ENST00000601016.5:c.725_751del	ENSP00000469981.1:p.Pro242_Glu250del
ENST00000612460.4:c.635_661del	ENSP00000481037.1:p.Pro212_Glu220del
ENST00000613002.4:c.593_619del	ENSP00000478154.1:p.Pro198_Glu206del
ENST00000615986.4:c.*453_*479del	ENSP00000480133.1:n.*453_*479del
NM_000116.4:c.725_751del	NP_000107.1:p.Pro242_Glu250del
NM_001303465.1:c.737_763del	NP_001290394.1:p.Pro246_Glu254del
NM_181311.3:c.635_661del	NP_851828.1:p.Pro212_Glu220del
NM_181312.3:c.683_709del	NP_851829.1:p.Pro228_Glu236del
NM_181313.3:c.593_619del	NP_851830.1:p.Pro198_Glu206del
NR_024048.2:n.1067_1093del
XM_006724836.1:c.779_805del	XP_006724899.1:p.Pro260_Glu268del
XM_006724837.1:c.764_790del	XP_006724900.1:p.Pro255_Glu263del
XM_006724839.1:c.647_673del	XP_006724902.1:p.Pro216_Glu224del
XM_006724841.2:c.518_544del	XP_006724904.1:p.Pro173_Glu181del
XM_006724842.2:c.428_454del	XP_006724905.1:p.Pro143_Glu151del
XM_011531189.1:c.566_592del	XP_011529491.1:p.Pro189_Glu197del
XM_011531190.1:c.518_544del	XP_011529492.1:p.Pro173_Glu181del
XM_011531191.1:c.449_475del	XP_011529493.1:p.Pro150_Glu158del
XM_011531192.1:c.446_472del	XP_011529494.1:p.Pro149_Glu157del
XR_938511.1:n.1073_1099del
XM_006724841.4:c.518_544del	XP_006724904.1:p.Pro173_Glu181del
XM_006724842.4:c.428_454del	XP_006724905.1:p.Pro143_Glu151del
XM_011531191.2:c.449_475del	XP_011529493.1:p.Pro150_Glu158del
XM_017029761.1:c.710_736del	XP_016885250.1:p.Pro237_Glu245del
XM_017029762.1:c.689_715del	XP_016885251.1:p.Pro230_Glu238del
XM_017029763.1:c.512_538del	XP_016885252.1:p.Pro171_Glu179del
XM_017029764.1:c.446_472del	XP_016885253.1:p.Pro149_Glu157del
XM_017029765.2:c.386_412del	XP_016885254.1:p.Pro129_Glu137del
XM_024452431.1:c.683_709del	XP_024308199.1:p.Pro228_Glu236del
NM_000116.5:c.725_751del MANE Select	NP_000107.1:p.Pro242_Glu250del
NM_001303465.2:c.737_763del	NP_001290394.1:p.Pro246_Glu254del
NM_181311.4:c.635_661del	NP_851828.1:p.Pro212_Glu220del
NM_181312.4:c.683_709del	NP_851829.1:p.Pro228_Glu236del
NM_181313.4:c.593_619del	NP_851830.1:p.Pro198_Glu206del
NR_024048.3:n.1046_1072del