Canonical Allele Identifier: CA2580101825

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2127122
• ClinVar RCV Id: RCV003052004

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419738del , CM000685.2:g.154419738del	GRCh38
NC_000023.10:g.153648077del , CM000685.1:g.153648077del	GRCh37
NC_000023.9:g.153301271del	NCBI36
NG_009634.1:g.13201del
NG_009634.2:g.13204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1100del
ENST00000698317.1:n.1716del
ENST00000698318.1:n.1499del
ENST00000698319.1:n.862del
ENST00000698320.1:n.750del
ENST00000470127.2:n.763del
ENST00000475699.6:c.539del	ENSP00000419854.3:p.Phe180SerfsTer8
ENST00000483674.3:n.457del
ENST00000601016.6:c.575del MANE Select	ENSP00000469981.1:p.Phe192SerfsTer8
ENST00000612012.5:c.541+115del	ENSP00000482070.2:n.541+115del
ENST00000612460.5:c.485del	ENSP00000481037.1:p.Phe162SerfsTer8
ENST00000614595.2:n.1922del
ENST00000615658.5:n.879del
ENST00000616020.5:c.595+115del	ENSP00000483636.2:n.595+115del
ENST00000617701.5:c.*303del	ENSP00000481645.1:n.*303del
ENST00000652354.1:c.265+115del	ENSP00000498734.1:n.265+115del
ENST00000652358.1:c.368del	ENSP00000498464.1:p.Phe123SerfsTer8
ENST00000652390.1:c.494del	ENSP00000498858.1:p.Phe165SerfsTer8
ENST00000652476.1:n.956del
ENST00000652644.1:c.188del	ENSP00000498496.1:p.Phe63SerfsTer8
ENST00000652682.1:c.632del	ENSP00000498288.1:p.Phe211SerfsTer8
ENST00000652685.1:n.643del
ENST00000369776.8:c.376+115del	ENSP00000358791.4:n.376+115del
ENST00000426231.5:c.572del
ENST00000439735.2:c.482del	ENSP00000398193.1:p.Phe161SerfsTer8
ENST00000470127.1:n.154del
ENST00000475699.5:c.541+115del	ENSP00000419854.2:n.541+115del
ENST00000476679.5:n.569del
ENST00000483780.5:n.340del
ENST00000494912.5:n.1264del
ENST00000601016.5:c.575del	ENSP00000469981.1:p.Phe192SerfsTer8
ENST00000612012.4:c.539del	ENSP00000482070.1:p.Phe180SerfsTer8
ENST00000612460.4:c.485del	ENSP00000481037.1:p.Phe162SerfsTer8
ENST00000613002.4:c.451+115del	ENSP00000478154.1:n.451+115del
ENST00000613634.4:n.805del
ENST00000615658.4:n.979del
ENST00000615986.4:c.*303del	ENSP00000480133.1:n.*303del
ENST00000620808.4:c.*170-294del	ENSP00000479311.1:n.*170-294del
NM_000116.4:c.575del	NP_000107.1:p.Phe192SerfsTer8
NM_001303465.1:c.595+115del	NP_001290394.1:n.595+115del
NM_181311.3:c.485del	NP_851828.1:p.Phe162SerfsTer8
NM_181312.3:c.541+115del	NP_851829.1:n.541+115del
NM_181313.3:c.451+115del	NP_851830.1:n.451+115del
NR_024048.2:n.917del
XM_006724836.1:c.629del	XP_006724899.1:p.Phe210SerfsTer8
XM_006724837.1:c.505+115del	XP_006724900.1:n.505+115del
XM_006724839.1:c.505+115del	XP_006724902.1:n.505+115del
XM_006724841.2:c.368del	XP_006724904.1:p.Phe123SerfsTer8
XM_006724842.2:c.278del	XP_006724905.1:p.Phe93SerfsTer8
XM_011531189.1:c.425-294del	XP_011529491.1:n.425-294del
XM_011531190.1:c.368del	XP_011529492.1:p.Phe123SerfsTer8
XM_011531191.1:c.299del	XP_011529493.1:p.Phe100SerfsTer8
XM_011531192.1:c.296del	XP_011529494.1:p.Phe99SerfsTer8
XR_938511.1:n.923del
XM_006724841.4:c.368del	XP_006724904.1:p.Phe123SerfsTer8
XM_006724842.4:c.278del	XP_006724905.1:p.Phe93SerfsTer8
XM_011531191.2:c.299del	XP_011529493.1:p.Phe100SerfsTer8
XM_017029761.1:c.451+115del	XP_016885250.1:n.451+115del
XM_017029762.1:c.539del	XP_016885251.1:p.Phe180SerfsTer8
XM_017029763.1:c.371-294del	XP_016885252.1:n.371-294del
XM_017029764.1:c.296del	XP_016885253.1:p.Phe99SerfsTer8
XM_017029765.2:c.244+115del	XP_016885254.1:n.244+115del
XM_024452431.1:c.425-294del	XP_024308199.1:n.425-294del
NM_000116.5:c.575del MANE Select	NP_000107.1:p.Phe192SerfsTer8
NM_001303465.2:c.595+115del	NP_001290394.1:n.595+115del
NM_181311.4:c.485del	NP_851828.1:p.Phe162SerfsTer8
NM_181312.4:c.541+115del	NP_851829.1:n.541+115del
NM_181313.4:c.451+115del	NP_851830.1:n.451+115del
NR_024048.3:n.896del