Canonical Allele Identifier: CA2580612529

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506912
• ClinVar RCV Id: RCV003237281

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420705_154420706insCGGGCGCCGGCGGCTCTCC , CM000685.2:g.154420705_154420706insCGGGCGCCGGCGGCTCTCC	GRCh38
NC_000023.10:g.153649044_153649045insCGGGCGCCGGCGGCTCTCC , CM000685.1:g.153649044_153649045insCGGGCGCCGGCGGCTCTCC	GRCh37
NC_000023.9:g.153302238_153302239insCGGGCGCCGGCGGCTCTCC	NCBI36
NG_009634.1:g.14168_14169insCGGGCGCCGGCGGCTCTCC
NG_009634.2:g.14171_14172insCGGGCGCCGGCGGCTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1557_1558insCGGGCGCCGGCGGCTCTCC
ENST00000698317.1:n.2173_2174insCGGGCGCCGGCGGCTCTCC
ENST00000698318.1:n.1956_1957insCGGGCGCCGGCGGCTCTCC
ENST00000698319.1:n.1319_1320insCGGGCGCCGGCGGCTCTCC
ENST00000698320.1:n.1207_1208insCGGGCGCCGGCGGCTCTCC
ENST00000470127.2:n.1220_1221insCGGGCGCCGGCGGCTCTCC
ENST00000475699.6:c.711_712insCGGGCGCCGGCGGCTCTCC	ENSP00000419854.3:p.Glu238ArgfsTer?
ENST00000483674.3:n.629_630insCGGGCGCCGGCGGCTCTCC
ENST00000601016.6:c.747_748insCGGGCGCCGGCGGCTCTCC MANE Select	ENSP00000469981.1:p.Glu250ArgfsTer?
ENST00000612012.5:c.705_706insCGGGCGCCGGCGGCTCTCC	ENSP00000482070.2:p.Glu236ArgfsTer?
ENST00000612460.5:c.657_658insCGGGCGCCGGCGGCTCTCC	ENSP00000481037.1:p.Glu220ArgfsTer?
ENST00000614595.2:n.2094_2095insCGGGCGCCGGCGGCTCTCC
ENST00000615658.5:n.1336_1337insCGGGCGCCGGCGGCTCTCC
ENST00000616020.5:c.759_760insCGGGCGCCGGCGGCTCTCC	ENSP00000483636.2:p.Glu254ArgfsTer?
ENST00000617701.5:c.*760_*761insCGGGCGCCGGCGGCTCTCC	ENSP00000481645.1:n.*760_*761insCGGGCGCCGGCGGCTCTCC
ENST00000651139.1:c.-37_-36insCGGGCGCCGGCGGCTCTCC	ENSP00000498957.1:n.-37_-36insCGGGCGCCGGCGGCTCTCC
ENST00000652354.1:c.429_430insCGGGCGCCGGCGGCTCTCC	ENSP00000498734.1:p.Glu144ArgfsTer?
ENST00000652358.1:c.540_541insCGGGCGCCGGCGGCTCTCC	ENSP00000498464.1:p.Glu181ArgfsTer?
ENST00000652390.1:c.666_667insCGGGCGCCGGCGGCTCTCC	ENSP00000498858.1:p.Glu223ArgfsTer?
ENST00000652476.1:n.1413_1414insCGGGCGCCGGCGGCTCTCC
ENST00000652644.1:c.360_361insCGGGCGCCGGCGGCTCTCC	ENSP00000498496.1:p.Glu121ArgfsTer?
ENST00000652682.1:c.804_805insCGGGCGCCGGCGGCTCTCC	ENSP00000498288.1:p.Glu269ArgfsTer?
ENST00000652685.1:n.1100_1101insCGGGCGCCGGCGGCTCTCC
ENST00000369776.8:c.657_658insCGGGCGCCGGCGGCTCTCC	ENSP00000358791.4:p.Glu220ArgfsTer?
ENST00000426231.5:c.744_745insCGGGCGCCGGCGGCTCTCC
ENST00000475699.5:c.705_706insCGGGCGCCGGCGGCTCTCC	ENSP00000419854.2:p.Glu236ArgfsTer?
ENST00000494912.5:n.1436_1437insCGGGCGCCGGCGGCTCTCC
ENST00000498029.1:n.205_206insCGGGCGCCGGCGGCTCTCC
ENST00000601016.5:c.747_748insCGGGCGCCGGCGGCTCTCC	ENSP00000469981.1:p.Glu250ArgfsTer?
ENST00000612460.4:c.657_658insCGGGCGCCGGCGGCTCTCC	ENSP00000481037.1:p.Glu220ArgfsTer?
ENST00000613002.4:c.615_616insCGGGCGCCGGCGGCTCTCC	ENSP00000478154.1:p.Glu206ArgfsTer?
ENST00000615986.4:c.*475_*476insCGGGCGCCGGCGGCTCTCC	ENSP00000480133.1:n.*475_*476insCGGGCGCCGGCGGCTCTCC
NM_000116.4:c.747_748insCGGGCGCCGGCGGCTCTCC	NP_000107.1:p.Glu250ArgfsTer?
NM_001303465.1:c.759_760insCGGGCGCCGGCGGCTCTCC	NP_001290394.1:p.Glu254ArgfsTer?
NM_181311.3:c.657_658insCGGGCGCCGGCGGCTCTCC	NP_851828.1:p.Glu220ArgfsTer?
NM_181312.3:c.705_706insCGGGCGCCGGCGGCTCTCC	NP_851829.1:p.Glu236ArgfsTer?
NM_181313.3:c.615_616insCGGGCGCCGGCGGCTCTCC	NP_851830.1:p.Glu206ArgfsTer?
NR_024048.2:n.1089_1090insCGGGCGCCGGCGGCTCTCC
XM_006724836.1:c.801_802insCGGGCGCCGGCGGCTCTCC	XP_006724899.1:p.Glu268ArgfsTer?
XM_006724837.1:c.786_787insCGGGCGCCGGCGGCTCTCC	XP_006724900.1:p.Glu263ArgfsTer?
XM_006724839.1:c.669_670insCGGGCGCCGGCGGCTCTCC	XP_006724902.1:p.Glu224ArgfsTer?
XM_006724841.2:c.540_541insCGGGCGCCGGCGGCTCTCC	XP_006724904.1:p.Glu181ArgfsTer?
XM_006724842.2:c.450_451insCGGGCGCCGGCGGCTCTCC	XP_006724905.1:p.Glu151ArgfsTer?
XM_011531189.1:c.588_589insCGGGCGCCGGCGGCTCTCC	XP_011529491.1:p.Glu197ArgfsTer?
XM_011531190.1:c.540_541insCGGGCGCCGGCGGCTCTCC	XP_011529492.1:p.Glu181ArgfsTer?
XM_011531191.1:c.471_472insCGGGCGCCGGCGGCTCTCC	XP_011529493.1:p.Glu158ArgfsTer?
XM_011531192.1:c.468_469insCGGGCGCCGGCGGCTCTCC	XP_011529494.1:p.Glu157ArgfsTer?
XR_938511.1:n.1095_1096insCGGGCGCCGGCGGCTCTCC
XM_006724841.4:c.540_541insCGGGCGCCGGCGGCTCTCC	XP_006724904.1:p.Glu181ArgfsTer?
XM_006724842.4:c.450_451insCGGGCGCCGGCGGCTCTCC	XP_006724905.1:p.Glu151ArgfsTer?
XM_011531191.2:c.471_472insCGGGCGCCGGCGGCTCTCC	XP_011529493.1:p.Glu158ArgfsTer?
XM_017029761.1:c.732_733insCGGGCGCCGGCGGCTCTCC	XP_016885250.1:p.Glu245ArgfsTer?
XM_017029762.1:c.711_712insCGGGCGCCGGCGGCTCTCC	XP_016885251.1:p.Glu238ArgfsTer?
XM_017029763.1:c.534_535insCGGGCGCCGGCGGCTCTCC	XP_016885252.1:p.Glu179ArgfsTer?
XM_017029764.1:c.468_469insCGGGCGCCGGCGGCTCTCC	XP_016885253.1:p.Glu157ArgfsTer?
XM_017029765.2:c.408_409insCGGGCGCCGGCGGCTCTCC	XP_016885254.1:p.Glu137ArgfsTer?
XM_024452431.1:c.705_706insCGGGCGCCGGCGGCTCTCC	XP_024308199.1:p.Glu236ArgfsTer?
NM_000116.5:c.747_748insCGGGCGCCGGCGGCTCTCC MANE Select	NP_000107.1:p.Glu250ArgfsTer?
NM_001303465.2:c.759_760insCGGGCGCCGGCGGCTCTCC	NP_001290394.1:p.Glu254ArgfsTer?
NM_181311.4:c.657_658insCGGGCGCCGGCGGCTCTCC	NP_851828.1:p.Glu220ArgfsTer?
NM_181312.4:c.705_706insCGGGCGCCGGCGGCTCTCC	NP_851829.1:p.Glu236ArgfsTer?
NM_181313.4:c.615_616insCGGGCGCCGGCGGCTCTCC	NP_851830.1:p.Glu206ArgfsTer?
NR_024048.3:n.1068_1069insCGGGCGCCGGCGGCTCTCC