Canonical Allele Identifier: CA2695121548

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154413316-CCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413323_154413325del , CM000685.2:g.154413323_154413325del	GRCh38
NC_000023.10:g.153641660_153641662del , CM000685.1:g.153641660_153641662del	GRCh37
NC_000023.9:g.153294854_153294856del	NCBI36
NG_009634.1:g.6784_6786del
NG_012884.2:g.3770_3772del
NG_009634.2:g.6789_6791del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.783_785del
ENST00000698235.1:n.342_344del
ENST00000698317.1:n.1309_1311del
ENST00000698318.1:n.1170_1172del
ENST00000470127.2:n.404_406del
ENST00000475699.6:c.338+71_338+73del	ENSP00000419854.3:n.338+71_338+73del
ENST00000476800.2:n.1312_1314del
ENST00000483674.3:n.175+71_175+73del
ENST00000601016.6:c.284+71_284+73del MANE Select	ENSP00000469981.1:n.284+71_284+73del
ENST00000612012.5:c.284+71_284+73del	ENSP00000482070.2:n.284+71_284+73del
ENST00000612460.5:c.284+71_284+73del	ENSP00000481037.1:n.284+71_284+73del
ENST00000614595.2:n.1705_1707del
ENST00000615658.5:n.597+71_597+73del
ENST00000616020.5:c.338+71_338+73del	ENSP00000483636.2:n.338+71_338+73del
ENST00000617701.5:c.*67_*69del	ENSP00000481645.1:n.*67_*69del
ENST00000621647.2:n.408_410del
ENST00000652354.1:c.8+71_8+73del	ENSP00000498734.1:n.8+71_8+73del
ENST00000652358.1:c.61_63del	ENSP00000498464.1:p.Pro21del
ENST00000652390.1:c.203+71_203+73del	ENSP00000498858.1:n.203+71_203+73del
ENST00000652476.1:n.516_518del
ENST00000652682.1:c.284+71_284+73del	ENSP00000498288.1:n.284+71_284+73del
ENST00000652685.1:n.407_409del
ENST00000369776.8:c.209+71_209+73del	ENSP00000358791.4:n.209+71_209+73del
ENST00000426231.5:c.171_173del
ENST00000439735.2:c.284+71_284+73del	ENSP00000398193.1:n.284+71_284+73del
ENST00000475699.5:c.284+71_284+73del	ENSP00000419854.2:n.284+71_284+73del
ENST00000476679.5:n.197+71_197+73del
ENST00000476800.1:n.233_235del
ENST00000479875.1:n.313+71_313+73del
ENST00000483780.5:n.58+71_58+73del
ENST00000601016.5:c.284+71_284+73del	ENSP00000469981.1:n.284+71_284+73del
ENST00000612012.4:c.338+71_338+73del	ENSP00000482070.1:n.338+71_338+73del
ENST00000612460.4:c.284+71_284+73del	ENSP00000481037.1:n.284+71_284+73del
ENST00000613002.4:c.284+71_284+73del	ENSP00000478154.1:n.284+71_284+73del
ENST00000613634.4:n.604+71_604+73del
ENST00000615658.4:n.681_683del
ENST00000615986.4:c.*67_*69del	ENSP00000480133.1:n.*67_*69del
ENST00000616020.4:c.338+71_338+73del	ENSP00000483636.1:n.338+71_338+73del
ENST00000617701.4:c.*67_*69del	ENSP00000481645.1:n.*67_*69del
ENST00000620808.4:c.*67_*69del	ENSP00000479311.1:n.*67_*69del
ENST00000621647.1:n.640_642del
NM_000116.4:c.284+71_284+73del	NP_000107.1:n.284+71_284+73del
NM_001303465.1:c.338+71_338+73del	NP_001290394.1:n.338+71_338+73del
NM_181311.3:c.284+71_284+73del	NP_851828.1:n.284+71_284+73del
NM_181312.3:c.284+71_284+73del	NP_851829.1:n.284+71_284+73del
NM_181313.3:c.284+71_284+73del	NP_851830.1:n.284+71_284+73del
NR_024048.2:n.681_683del
XM_006724836.1:c.338+71_338+73del	XP_006724899.1:n.338+71_338+73del
XM_006724837.1:c.338+71_338+73del	XP_006724900.1:n.338+71_338+73del
XM_006724839.1:c.338+71_338+73del	XP_006724902.1:n.338+71_338+73del
XM_006724841.2:c.61_63del	XP_006724904.1:p.Pro21del
XM_006724842.2:c.61_63del	XP_006724905.1:p.Pro21del
XM_011531189.1:c.338+71_338+73del	XP_011529491.1:n.338+71_338+73del
XM_011531190.1:c.61_63del	XP_011529492.1:p.Pro21del
XM_011531191.1:c.8+71_8+73del	XP_011529493.1:n.8+71_8+73del
XM_011531192.1:c.-43_-41del	XP_011529494.1:n.-43_-41del
XR_938511.1:n.641+71_641+73del
XM_006724841.4:c.61_63del	XP_006724904.1:p.Pro21del
XM_006724842.4:c.61_63del	XP_006724905.1:p.Pro21del
XM_011531191.2:c.8+71_8+73del	XP_011529493.1:n.8+71_8+73del
XM_017029761.1:c.284+71_284+73del	XP_016885250.1:n.284+71_284+73del
XM_017029762.1:c.338+71_338+73del	XP_016885251.1:n.338+71_338+73del
XM_017029763.1:c.284+71_284+73del	XP_016885252.1:n.284+71_284+73del
XM_017029764.1:c.-43_-41del	XP_016885253.1:n.-43_-41del
XM_017029765.2:c.61_63del	XP_016885254.1:p.Pro21del
XM_024452431.1:c.338+71_338+73del	XP_024308199.1:n.338+71_338+73del
NM_000116.5:c.284+71_284+73del MANE Select	NP_000107.1:n.284+71_284+73del
NM_001303465.2:c.338+71_338+73del	NP_001290394.1:n.338+71_338+73del
NM_181311.4:c.284+71_284+73del	NP_851828.1:n.284+71_284+73del
NM_181312.4:c.284+71_284+73del	NP_851829.1:n.284+71_284+73del
NM_181313.4:c.284+71_284+73del	NP_851830.1:n.284+71_284+73del
NR_024048.3:n.660_662del