Canonical Allele Identifier: CA2579739020

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420039del , CM000685.2:g.154420039del	GRCh38
NC_000023.10:g.153648378del , CM000685.1:g.153648378del	GRCh37
NC_000023.9:g.153301572del	NCBI36
NG_009634.1:g.13502del
NG_009634.2:g.13505del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1401del
ENST00000698317.1:n.2017del
ENST00000698318.1:n.1800del
ENST00000698319.1:n.1163del
ENST00000698320.1:n.1051del
ENST00000470127.2:n.1064del
ENST00000475699.6:c.555del	ENSP00000419854.3:p.Arg186AlafsTer2
ENST00000483674.3:n.473del
ENST00000601016.6:c.591del MANE Select	ENSP00000469981.1:p.Arg198AlafsTer2
ENST00000612012.5:c.549del	ENSP00000482070.2:p.Arg184AlafsTer2
ENST00000612460.5:c.501del	ENSP00000481037.1:p.Arg168AlafsTer2
ENST00000614595.2:n.1938del
ENST00000615658.5:n.1180del
ENST00000616020.5:c.603del	ENSP00000483636.2:p.Arg202AlafsTer2
ENST00000617701.5:c.*604del	ENSP00000481645.1:n.*604del
ENST00000652354.1:c.273del	ENSP00000498734.1:p.Arg92AlafsTer2
ENST00000652358.1:c.384del	ENSP00000498464.1:p.Arg129AlafsTer2
ENST00000652390.1:c.510del	ENSP00000498858.1:p.Arg171AlafsTer2
ENST00000652476.1:n.1257del
ENST00000652644.1:c.204del	ENSP00000498496.1:p.Arg69AlafsTer2
ENST00000652682.1:c.648del	ENSP00000498288.1:p.Arg217AlafsTer2
ENST00000652685.1:n.944del
ENST00000369776.8:c.384del	ENSP00000358791.4:p.Arg129AlafsTer2
ENST00000426231.5:c.588del
ENST00000439735.2:c.498del	ENSP00000398193.1:p.Arg167AlafsTer2
ENST00000470127.1:n.170del
ENST00000475699.5:c.549del	ENSP00000419854.2:p.Arg184AlafsTer2
ENST00000494912.5:n.1280del
ENST00000498029.1:n.49del
ENST00000601016.5:c.591del	ENSP00000469981.1:p.Arg198AlafsTer2
ENST00000612012.4:c.555del	ENSP00000482070.1:p.Arg186AlafsTer2
ENST00000612460.4:c.501del	ENSP00000481037.1:p.Arg168AlafsTer2
ENST00000613002.4:c.459del	ENSP00000478154.1:p.Arg154AlafsTer2
ENST00000613634.4:n.1106del
ENST00000615658.4:n.1280del
ENST00000615986.4:c.*319del	ENSP00000480133.1:n.*319del
ENST00000620808.4:c.*177del	ENSP00000479311.1:n.*177del
NM_000116.4:c.591del	NP_000107.1:p.Arg198AlafsTer2
NM_001303465.1:c.603del	NP_001290394.1:p.Arg202AlafsTer2
NM_181311.3:c.501del	NP_851828.1:p.Arg168AlafsTer2
NM_181312.3:c.549del	NP_851829.1:p.Arg184AlafsTer2
NM_181313.3:c.459del	NP_851830.1:p.Arg154AlafsTer2
NR_024048.2:n.933del
XM_006724836.1:c.645del	XP_006724899.1:p.Arg216AlafsTer2
XM_006724837.1:c.513del	XP_006724900.1:p.Arg172AlafsTer2
XM_006724839.1:c.513del	XP_006724902.1:p.Arg172AlafsTer2
XM_006724841.2:c.384del	XP_006724904.1:p.Arg129AlafsTer2
XM_006724842.2:c.294del	XP_006724905.1:p.Arg99AlafsTer2
XM_011531189.1:c.432del	XP_011529491.1:p.Arg145AlafsTer2
XM_011531190.1:c.384del	XP_011529492.1:p.Arg129AlafsTer2
XM_011531191.1:c.315del	XP_011529493.1:p.Arg106AlafsTer2
XM_011531192.1:c.312del	XP_011529494.1:p.Arg105AlafsTer2
XR_938511.1:n.939del
XM_006724841.4:c.384del	XP_006724904.1:p.Arg129AlafsTer2
XM_006724842.4:c.294del	XP_006724905.1:p.Arg99AlafsTer2
XM_011531191.2:c.315del	XP_011529493.1:p.Arg106AlafsTer2
XM_017029761.1:c.459del	XP_016885250.1:p.Arg154AlafsTer2
XM_017029762.1:c.555del	XP_016885251.1:p.Arg186AlafsTer2
XM_017029763.1:c.378del	XP_016885252.1:p.Arg127AlafsTer2
XM_017029764.1:c.312del	XP_016885253.1:p.Arg105AlafsTer2
XM_017029765.2:c.252del	XP_016885254.1:p.Arg85AlafsTer2
XM_024452431.1:c.432del	XP_024308199.1:p.Arg145AlafsTer2
NM_000116.5:c.591del MANE Select	NP_000107.1:p.Arg198AlafsTer2
NM_001303465.2:c.603del	NP_001290394.1:p.Arg202AlafsTer2
NM_181311.4:c.501del	NP_851828.1:p.Arg168AlafsTer2
NM_181312.4:c.549del	NP_851829.1:p.Arg184AlafsTer2
NM_181313.4:c.459del	NP_851830.1:p.Arg154AlafsTer2
NR_024048.3:n.912del