Canonical Allele Identifier: CA2573050724

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 11103
• ClinVar RCV Id: RCV000011852
• dbSNP Id: rs2148211636

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419743dup , CM000685.2:g.154419743dup	GRCh38
NC_000023.10:g.153648082dup , CM000685.1:g.153648082dup	GRCh37
NC_000023.9:g.153301276dup	NCBI36
NG_009634.1:g.13206dup
NG_009634.2:g.13209dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1105dup
ENST00000698317.1:n.1721dup
ENST00000698318.1:n.1504dup
ENST00000698319.1:n.867dup
ENST00000698320.1:n.755dup
ENST00000470127.2:n.768dup
ENST00000475699.6:c.544dup	ENSP00000419854.3:p.Trp182LeufsTer9
ENST00000483674.3:n.462dup
ENST00000601016.6:c.580dup MANE Select	ENSP00000469981.1:p.Trp194LeufsTer9
ENST00000612012.5:c.541+120dup	ENSP00000482070.2:n.541+120dup
ENST00000612460.5:c.490dup	ENSP00000481037.1:p.Trp164LeufsTer9
ENST00000614595.2:n.1927dup
ENST00000615658.5:n.884dup
ENST00000616020.5:c.595+120dup	ENSP00000483636.2:n.595+120dup
ENST00000617701.5:c.*308dup	ENSP00000481645.1:n.*308dup
ENST00000652354.1:c.265+120dup	ENSP00000498734.1:n.265+120dup
ENST00000652358.1:c.373dup	ENSP00000498464.1:p.Trp125LeufsTer9
ENST00000652390.1:c.499dup	ENSP00000498858.1:p.Trp167LeufsTer9
ENST00000652476.1:n.961dup
ENST00000652644.1:c.193dup	ENSP00000498496.1:p.Trp65LeufsTer9
ENST00000652682.1:c.637dup	ENSP00000498288.1:p.Trp213LeufsTer9
ENST00000652685.1:n.648dup
ENST00000369776.8:c.376+120dup	ENSP00000358791.4:n.376+120dup
ENST00000426231.5:c.577dup
ENST00000439735.2:c.487dup	ENSP00000398193.1:p.Trp163LeufsTer9
ENST00000470127.1:n.159dup
ENST00000475699.5:c.541+120dup	ENSP00000419854.2:n.541+120dup
ENST00000476679.5:n.574dup
ENST00000483780.5:n.345dup
ENST00000494912.5:n.1269dup
ENST00000601016.5:c.580dup	ENSP00000469981.1:p.Trp194LeufsTer9
ENST00000612012.4:c.544dup	ENSP00000482070.1:p.Trp182LeufsTer9
ENST00000612460.4:c.490dup	ENSP00000481037.1:p.Trp164LeufsTer9
ENST00000613002.4:c.451+120dup	ENSP00000478154.1:n.451+120dup
ENST00000613634.4:n.810dup
ENST00000615658.4:n.984dup
ENST00000615986.4:c.*308dup	ENSP00000480133.1:n.*308dup
ENST00000620808.4:c.*170-289dup	ENSP00000479311.1:n.*170-289dup
NM_000116.4:c.580dup	NP_000107.1:p.Trp194LeufsTer9
NM_001303465.1:c.595+120dup	NP_001290394.1:n.595+120dup
NM_181311.3:c.490dup	NP_851828.1:p.Trp164LeufsTer9
NM_181312.3:c.541+120dup	NP_851829.1:n.541+120dup
NM_181313.3:c.451+120dup	NP_851830.1:n.451+120dup
NR_024048.2:n.922dup
XM_006724836.1:c.634dup	XP_006724899.1:p.Trp212LeufsTer9
XM_006724837.1:c.505+120dup	XP_006724900.1:n.505+120dup
XM_006724839.1:c.505+120dup	XP_006724902.1:n.505+120dup
XM_006724841.2:c.373dup	XP_006724904.1:p.Trp125LeufsTer9
XM_006724842.2:c.283dup	XP_006724905.1:p.Trp95LeufsTer9
XM_011531189.1:c.425-289dup	XP_011529491.1:n.425-289dup
XM_011531190.1:c.373dup	XP_011529492.1:p.Trp125LeufsTer9
XM_011531191.1:c.304dup	XP_011529493.1:p.Trp102LeufsTer9
XM_011531192.1:c.301dup	XP_011529494.1:p.Trp101LeufsTer9
XR_938511.1:n.928dup
XM_006724841.4:c.373dup	XP_006724904.1:p.Trp125LeufsTer9
XM_006724842.4:c.283dup	XP_006724905.1:p.Trp95LeufsTer9
XM_011531191.2:c.304dup	XP_011529493.1:p.Trp102LeufsTer9
XM_017029761.1:c.451+120dup	XP_016885250.1:n.451+120dup
XM_017029762.1:c.544dup	XP_016885251.1:p.Trp182LeufsTer9
XM_017029763.1:c.371-289dup	XP_016885252.1:n.371-289dup
XM_017029764.1:c.301dup	XP_016885253.1:p.Trp101LeufsTer9
XM_017029765.2:c.244+120dup	XP_016885254.1:n.244+120dup
XM_024452431.1:c.425-289dup	XP_024308199.1:n.425-289dup
NM_000116.5:c.580dup MANE Select	NP_000107.1:p.Trp194LeufsTer9
NM_001303465.2:c.595+120dup	NP_001290394.1:n.595+120dup
NM_181311.4:c.490dup	NP_851828.1:p.Trp164LeufsTer9
NM_181312.4:c.541+120dup	NP_851829.1:n.541+120dup
NM_181313.4:c.451+120dup	NP_851830.1:n.451+120dup
NR_024048.3:n.901dup