Canonical Allele Identifier: CA308811

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs794729172

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420705_154420706delinsA , CM000685.2:g.154420705_154420706delinsA	GRCh38
NC_000023.10:g.153649044_153649045delinsA , CM000685.1:g.153649044_153649045delinsA	GRCh37
NC_000023.9:g.153302238_153302239delinsA	NCBI36
NG_009634.1:g.14168_14169delinsA
NG_009634.2:g.14171_14172delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1557_1558delinsA
ENST00000698317.1:n.2173_2174delinsA
ENST00000698318.1:n.1956_1957delinsA
ENST00000698319.1:n.1319_1320delinsA
ENST00000698320.1:n.1207_1208delinsA
ENST00000470127.2:n.1220_1221delinsA
ENST00000475699.6:c.711_712delinsA	ENSP00000419854.3:p.Glu238SerfsTer17
ENST00000483674.3:n.629_630delinsA
ENST00000601016.6:c.747_748delinsA MANE Select	ENSP00000469981.1:p.Glu250SerfsTer17
ENST00000612012.5:c.705_706delinsA	ENSP00000482070.2:p.Glu236SerfsTer17
ENST00000612460.5:c.657_658delinsA	ENSP00000481037.1:p.Glu220SerfsTer17
ENST00000614595.2:n.2094_2095delinsA
ENST00000615658.5:n.1336_1337delinsA
ENST00000616020.5:c.759_760delinsA	ENSP00000483636.2:p.Glu254SerfsTer17
ENST00000617701.5:c.*760_*761delinsA	ENSP00000481645.1:n.*760_*761delinsA
ENST00000651139.1:c.-37_-36delinsA	ENSP00000498957.1:n.-37_-36delinsA
ENST00000652354.1:c.429_430delinsA	ENSP00000498734.1:p.Glu144SerfsTer17
ENST00000652358.1:c.540_541delinsA	ENSP00000498464.1:p.Glu181SerfsTer17
ENST00000652390.1:c.666_667delinsA	ENSP00000498858.1:p.Glu223SerfsTer17
ENST00000652476.1:n.1413_1414delinsA
ENST00000652644.1:c.360_361delinsA	ENSP00000498496.1:p.Glu121SerfsTer17
ENST00000652682.1:c.804_805delinsA	ENSP00000498288.1:p.Glu269SerfsTer17
ENST00000652685.1:n.1100_1101delinsA
ENST00000369776.8:c.657_658delinsA	ENSP00000358791.4:p.Glu220SerfsTer17
ENST00000426231.5:c.744_745delinsA
ENST00000475699.5:c.705_706delinsA	ENSP00000419854.2:p.Glu236SerfsTer17
ENST00000494912.5:n.1436_1437delinsA
ENST00000498029.1:n.205_206delinsA
ENST00000601016.5:c.747_748delinsA	ENSP00000469981.1:p.Glu250SerfsTer17
ENST00000612460.4:c.657_658delinsA	ENSP00000481037.1:p.Glu220SerfsTer17
ENST00000613002.4:c.615_616delinsA	ENSP00000478154.1:p.Glu206SerfsTer17
ENST00000615986.4:c.*475_*476delinsA	ENSP00000480133.1:n.*475_*476delinsA
NM_000116.4:c.747_748delinsA	NP_000107.1:p.Glu250SerfsTer17
NM_001303465.1:c.759_760delinsA	NP_001290394.1:p.Glu254SerfsTer17
NM_181311.3:c.657_658delinsA	NP_851828.1:p.Glu220SerfsTer17
NM_181312.3:c.705_706delinsA	NP_851829.1:p.Glu236SerfsTer17
NM_181313.3:c.615_616delinsA	NP_851830.1:p.Glu206SerfsTer17
NR_024048.2:n.1089_1090delinsA
XM_006724836.1:c.801_802delinsA	XP_006724899.1:p.Glu268SerfsTer17
XM_006724837.1:c.786_787delinsA	XP_006724900.1:p.Glu263SerfsTer17
XM_006724839.1:c.669_670delinsA	XP_006724902.1:p.Glu224SerfsTer17
XM_006724841.2:c.540_541delinsA	XP_006724904.1:p.Glu181SerfsTer17
XM_006724842.2:c.450_451delinsA	XP_006724905.1:p.Glu151SerfsTer17
XM_011531189.1:c.588_589delinsA	XP_011529491.1:p.Glu197SerfsTer17
XM_011531190.1:c.540_541delinsA	XP_011529492.1:p.Glu181SerfsTer17
XM_011531191.1:c.471_472delinsA	XP_011529493.1:p.Glu158SerfsTer17
XM_011531192.1:c.468_469delinsA	XP_011529494.1:p.Glu157SerfsTer17
XR_938511.1:n.1095_1096delinsA
XM_006724841.4:c.540_541delinsA	XP_006724904.1:p.Glu181SerfsTer17
XM_006724842.4:c.450_451delinsA	XP_006724905.1:p.Glu151SerfsTer17
XM_011531191.2:c.471_472delinsA	XP_011529493.1:p.Glu158SerfsTer17
XM_017029761.1:c.732_733delinsA	XP_016885250.1:p.Glu245SerfsTer17
XM_017029762.1:c.711_712delinsA	XP_016885251.1:p.Glu238SerfsTer17
XM_017029763.1:c.534_535delinsA	XP_016885252.1:p.Glu179SerfsTer17
XM_017029764.1:c.468_469delinsA	XP_016885253.1:p.Glu157SerfsTer17
XM_017029765.2:c.408_409delinsA	XP_016885254.1:p.Glu137SerfsTer17
XM_024452431.1:c.705_706delinsA	XP_024308199.1:p.Glu236SerfsTer17
NM_000116.5:c.747_748delinsA MANE Select	NP_000107.1:p.Glu250SerfsTer17
NM_001303465.2:c.759_760delinsA	NP_001290394.1:p.Glu254SerfsTer17
NM_181311.4:c.657_658delinsA	NP_851828.1:p.Glu220SerfsTer17
NM_181312.4:c.705_706delinsA	NP_851829.1:p.Glu236SerfsTer17
NM_181313.4:c.615_616delinsA	NP_851830.1:p.Glu206SerfsTer17
NR_024048.3:n.1068_1069delinsA