Canonical Allele Identifier: CA2522566103

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413286_154413290del , CM000685.2:g.154413286_154413290del	GRCh38
NC_000023.10:g.153641623_153641627del , CM000685.1:g.153641623_153641627del	GRCh37
NC_000023.9:g.153294817_153294821del	NCBI36
NG_009634.1:g.6747_6751del
NG_012884.2:g.3806_3810del
NG_009634.2:g.6752_6756del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.746_750del
ENST00000698235.1:n.305_309del
ENST00000698317.1:n.1272_1276del
ENST00000698318.1:n.1133_1137del
ENST00000470127.2:n.367_371del
ENST00000475699.6:c.338+34_338+38del	ENSP00000419854.3:n.338+34_338+38del
ENST00000476800.2:n.1275_1279del
ENST00000483674.3:n.175+34_175+38del
ENST00000601016.6:c.284+34_284+38del MANE Select	ENSP00000469981.1:n.284+34_284+38del
ENST00000612012.5:c.284+34_284+38del	ENSP00000482070.2:n.284+34_284+38del
ENST00000612460.5:c.284+34_284+38del	ENSP00000481037.1:n.284+34_284+38del
ENST00000614595.2:n.1668_1672del
ENST00000615658.5:n.597+34_597+38del
ENST00000616020.5:c.338+34_338+38del	ENSP00000483636.2:n.338+34_338+38del
ENST00000617701.5:c.*30_*34del	ENSP00000481645.1:n.*30_*34del
ENST00000621647.2:n.371_375del
ENST00000652354.1:c.8+34_8+38del	ENSP00000498734.1:n.8+34_8+38del
ENST00000652358.1:c.24_28del	ENSP00000498464.1:p.Ala10ThrfsTer?
ENST00000652390.1:c.203+34_203+38del	ENSP00000498858.1:n.203+34_203+38del
ENST00000652476.1:n.479_483del
ENST00000652682.1:c.284+34_284+38del	ENSP00000498288.1:n.284+34_284+38del
ENST00000652685.1:n.370_374del
ENST00000369776.8:c.209+34_209+38del	ENSP00000358791.4:n.209+34_209+38del
ENST00000426231.5:c.134_138del
ENST00000439735.2:c.284+34_284+38del	ENSP00000398193.1:n.284+34_284+38del
ENST00000475699.5:c.284+34_284+38del	ENSP00000419854.2:n.284+34_284+38del
ENST00000476679.5:n.197+34_197+38del
ENST00000476800.1:n.196_200del
ENST00000479875.1:n.313+34_313+38del
ENST00000483780.5:n.58+34_58+38del
ENST00000601016.5:c.284+34_284+38del	ENSP00000469981.1:n.284+34_284+38del
ENST00000612012.4:c.338+34_338+38del	ENSP00000482070.1:n.338+34_338+38del
ENST00000612460.4:c.284+34_284+38del	ENSP00000481037.1:n.284+34_284+38del
ENST00000613002.4:c.284+34_284+38del	ENSP00000478154.1:n.284+34_284+38del
ENST00000613634.4:n.604+34_604+38del
ENST00000615658.4:n.644_648del
ENST00000615986.4:c.*30_*34del	ENSP00000480133.1:n.*30_*34del
ENST00000616020.4:c.338+34_338+38del	ENSP00000483636.1:n.338+34_338+38del
ENST00000617701.4:c.*30_*34del	ENSP00000481645.1:n.*30_*34del
ENST00000620808.4:c.*30_*34del	ENSP00000479311.1:n.*30_*34del
ENST00000621647.1:n.603_607del
NM_000116.4:c.284+34_284+38del	NP_000107.1:n.284+34_284+38del
NM_001303465.1:c.338+34_338+38del	NP_001290394.1:n.338+34_338+38del
NM_181311.3:c.284+34_284+38del	NP_851828.1:n.284+34_284+38del
NM_181312.3:c.284+34_284+38del	NP_851829.1:n.284+34_284+38del
NM_181313.3:c.284+34_284+38del	NP_851830.1:n.284+34_284+38del
NR_024048.2:n.644_648del
XM_006724836.1:c.338+34_338+38del	XP_006724899.1:n.338+34_338+38del
XM_006724837.1:c.338+34_338+38del	XP_006724900.1:n.338+34_338+38del
XM_006724839.1:c.338+34_338+38del	XP_006724902.1:n.338+34_338+38del
XM_006724841.2:c.24_28del	XP_006724904.1:p.Ala10ThrfsTer?
XM_006724842.2:c.24_28del	XP_006724905.1:p.Ala10ThrfsTer?
XM_011531189.1:c.338+34_338+38del	XP_011529491.1:n.338+34_338+38del
XM_011531190.1:c.24_28del	XP_011529492.1:p.Ala10ThrfsTer?
XM_011531191.1:c.8+34_8+38del	XP_011529493.1:n.8+34_8+38del
XM_011531192.1:c.-80_-76del	XP_011529494.1:n.-80_-76del
XR_938511.1:n.641+34_641+38del
XM_006724841.4:c.24_28del	XP_006724904.1:p.Ala10ThrfsTer?
XM_006724842.4:c.24_28del	XP_006724905.1:p.Ala10ThrfsTer?
XM_011531191.2:c.8+34_8+38del	XP_011529493.1:n.8+34_8+38del
XM_017029761.1:c.284+34_284+38del	XP_016885250.1:n.284+34_284+38del
XM_017029762.1:c.338+34_338+38del	XP_016885251.1:n.338+34_338+38del
XM_017029763.1:c.284+34_284+38del	XP_016885252.1:n.284+34_284+38del
XM_017029764.1:c.-80_-76del	XP_016885253.1:n.-80_-76del
XM_017029765.2:c.24_28del	XP_016885254.1:p.Ala10ThrfsTer?
XM_024452431.1:c.338+34_338+38del	XP_024308199.1:n.338+34_338+38del
NM_000116.5:c.284+34_284+38del MANE Select	NP_000107.1:n.284+34_284+38del
NM_001303465.2:c.338+34_338+38del	NP_001290394.1:n.338+34_338+38del
NM_181311.4:c.284+34_284+38del	NP_851828.1:n.284+34_284+38del
NM_181312.4:c.284+34_284+38del	NP_851829.1:n.284+34_284+38del
NM_181313.4:c.284+34_284+38del	NP_851830.1:n.284+34_284+38del
NR_024048.3:n.623_627del