Canonical Allele Identifier: CA2695237040

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413207_154413208insC , CM000685.2:g.154413207_154413208insC	GRCh38
NC_000023.10:g.153641544_153641545insC , CM000685.1:g.153641544_153641545insC	GRCh37
NC_000023.9:g.153294738_153294739insC	NCBI36
NG_009634.1:g.6668_6669insC
NG_012884.2:g.3881_3882insG
NG_009634.2:g.6673_6674insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.667_668insC
ENST00000698235.1:n.226_227insC
ENST00000698317.1:n.1193_1194insC
ENST00000698318.1:n.1054_1055insC
ENST00000470127.2:n.288_289insC
ENST00000475699.6:c.293_294insC	ENSP00000419854.3:p.Ile99AspfsTer?
ENST00000476800.2:n.1196_1197insC
ENST00000483674.3:n.130_131insC
ENST00000601016.6:c.239_240insC MANE Select	ENSP00000469981.1:p.Ile81AspfsTer?
ENST00000612012.5:c.239_240insC	ENSP00000482070.2:p.Ile81AspfsTer?
ENST00000612460.5:c.239_240insC	ENSP00000481037.1:p.Ile81AspfsTer?
ENST00000614595.2:n.1589_1590insC
ENST00000615658.5:n.552_553insC
ENST00000616020.5:c.293_294insC	ENSP00000483636.2:p.Ile99AspfsTer?
ENST00000617701.5:c.239_240insC	ENSP00000481645.1:p.Ile81AspfsTer?
ENST00000621647.2:n.292_293insC
ENST00000652354.1:c.-38_-37insC	ENSP00000498734.1:n.-38_-37insC
ENST00000652358.1:c.-56_-55insC	ENSP00000498464.1:n.-56_-55insC
ENST00000652390.1:c.158_159insC	ENSP00000498858.1:p.Ile54AspfsTer?
ENST00000652476.1:n.400_401insC
ENST00000652682.1:c.239_240insC	ENSP00000498288.1:p.Ile81AspfsTer?
ENST00000652685.1:n.291_292insC
ENST00000369776.8:c.164_165insC	ENSP00000358791.4:p.Ile56AspfsTer?
ENST00000426231.5:c.55_56insC
ENST00000439735.2:c.239_240insC	ENSP00000398193.1:p.Ile81AspfsTer?
ENST00000475699.5:c.239_240insC	ENSP00000419854.2:p.Ile81AspfsTer?
ENST00000476679.5:n.152_153insC
ENST00000476800.1:n.117_118insC
ENST00000479875.1:n.268_269insC
ENST00000483780.5:n.13_14insC
ENST00000601016.5:c.239_240insC	ENSP00000469981.1:p.Ile81AspfsTer?
ENST00000612012.4:c.293_294insC	ENSP00000482070.1:p.Ile99AspfsTer?
ENST00000612460.4:c.239_240insC	ENSP00000481037.1:p.Ile81AspfsTer?
ENST00000613002.4:c.239_240insC	ENSP00000478154.1:p.Ile81AspfsTer?
ENST00000613634.4:n.559_560insC
ENST00000615658.4:n.565_566insC
ENST00000615986.4:c.239_240insC	ENSP00000480133.1:p.Ile81AspfsTer?
ENST00000616020.4:c.293_294insC	ENSP00000483636.1:p.Ile99AspfsTer?
ENST00000617701.4:c.239_240insC	ENSP00000481645.1:p.Ile81AspfsTer?
ENST00000620808.4:c.239_240insC	ENSP00000479311.1:p.Ile81AspfsTer?
ENST00000621647.1:n.524_525insC
NM_000116.4:c.239_240insC	NP_000107.1:p.Ile81AspfsTer?
NM_001303465.1:c.293_294insC	NP_001290394.1:p.Ile99AspfsTer?
NM_181311.3:c.239_240insC	NP_851828.1:p.Ile81AspfsTer?
NM_181312.3:c.239_240insC	NP_851829.1:p.Ile81AspfsTer?
NM_181313.3:c.239_240insC	NP_851830.1:p.Ile81AspfsTer?
NR_024048.2:n.565_566insC
XM_006724836.1:c.293_294insC	XP_006724899.1:p.Ile99AspfsTer?
XM_006724837.1:c.293_294insC	XP_006724900.1:p.Ile99AspfsTer?
XM_006724839.1:c.293_294insC	XP_006724902.1:p.Ile99AspfsTer?
XM_006724841.2:c.-56_-55insC	XP_006724904.1:n.-56_-55insC
XM_006724842.2:c.-56_-55insC	XP_006724905.1:n.-56_-55insC
XM_011531189.1:c.293_294insC	XP_011529491.1:p.Ile99AspfsTer?
XM_011531190.1:c.-56_-55insC	XP_011529492.1:n.-56_-55insC
XM_011531191.1:c.-38_-37insC	XP_011529493.1:n.-38_-37insC
XM_011531192.1:c.-159_-158insC	XP_011529494.1:n.-159_-158insC
XR_938511.1:n.596_597insC
XM_006724841.4:c.-56_-55insC	XP_006724904.1:n.-56_-55insC
XM_006724842.4:c.-56_-55insC	XP_006724905.1:n.-56_-55insC
XM_011531191.2:c.-38_-37insC	XP_011529493.1:n.-38_-37insC
XM_017029761.1:c.239_240insC	XP_016885250.1:p.Ile81AspfsTer?
XM_017029762.1:c.293_294insC	XP_016885251.1:p.Ile99AspfsTer?
XM_017029763.1:c.239_240insC	XP_016885252.1:p.Ile81AspfsTer?
XM_017029765.2:c.-56_-55insC	XP_016885254.1:n.-56_-55insC
XM_024452431.1:c.293_294insC	XP_024308199.1:p.Ile99AspfsTer?
NM_000116.5:c.239_240insC MANE Select	NP_000107.1:p.Ile81AspfsTer?
NM_001303465.2:c.293_294insC	NP_001290394.1:p.Ile99AspfsTer?
NM_181311.4:c.239_240insC	NP_851828.1:p.Ile81AspfsTer?
NM_181312.4:c.239_240insC	NP_851829.1:p.Ile81AspfsTer?
NM_181313.4:c.239_240insC	NP_851830.1:p.Ile81AspfsTer?
NR_024048.3:n.544_545insC