Canonical Allele Identifier: CA658655615

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419743_154419744dup , CM000685.2:g.154419743_154419744dup	GRCh38
NC_000023.10:g.153648082_153648083dup , CM000685.1:g.153648082_153648083dup	GRCh37
NC_000023.9:g.153301276_153301277dup	NCBI36
NG_009634.1:g.13206_13207dup
NG_009634.2:g.13209_13210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1105_1106dup
ENST00000698317.1:n.1721_1722dup
ENST00000698318.1:n.1504_1505dup
ENST00000698319.1:n.867_868dup
ENST00000698320.1:n.755_756dup
ENST00000470127.2:n.768_769dup
ENST00000475699.6:c.544_545dup	ENSP00000419854.3:p.Trp182CysfsTer7
ENST00000483674.3:n.462_463dup
ENST00000601016.6:c.580_581dup MANE Select	ENSP00000469981.1:p.Trp194CysfsTer7
ENST00000612012.5:c.541+120_541+121dup	ENSP00000482070.2:n.541+120_541+121dup
ENST00000612460.5:c.490_491dup	ENSP00000481037.1:p.Trp164CysfsTer7
ENST00000614595.2:n.1927_1928dup
ENST00000615658.5:n.884_885dup
ENST00000616020.5:c.595+120_595+121dup	ENSP00000483636.2:n.595+120_595+121dup
ENST00000617701.5:c.*308_*309dup	ENSP00000481645.1:n.*308_*309dup
ENST00000652354.1:c.265+120_265+121dup	ENSP00000498734.1:n.265+120_265+121dup
ENST00000652358.1:c.373_374dup	ENSP00000498464.1:p.Trp125CysfsTer7
ENST00000652390.1:c.499_500dup	ENSP00000498858.1:p.Trp167CysfsTer7
ENST00000652476.1:n.961_962dup
ENST00000652644.1:c.193_194dup	ENSP00000498496.1:p.Trp65CysfsTer7
ENST00000652682.1:c.637_638dup	ENSP00000498288.1:p.Trp213CysfsTer7
ENST00000652685.1:n.648_649dup
ENST00000369776.8:c.376+120_376+121dup	ENSP00000358791.4:n.376+120_376+121dup
ENST00000426231.5:c.577_578dup
ENST00000439735.2:c.487_488dup	ENSP00000398193.1:p.Trp163CysfsTer7
ENST00000470127.1:n.159_160dup
ENST00000475699.5:c.541+120_541+121dup	ENSP00000419854.2:n.541+120_541+121dup
ENST00000476679.5:n.574_575dup
ENST00000483780.5:n.345_346dup
ENST00000494912.5:n.1269_1270dup
ENST00000601016.5:c.580_581dup	ENSP00000469981.1:p.Trp194CysfsTer7
ENST00000612012.4:c.544_545dup	ENSP00000482070.1:p.Trp182CysfsTer7
ENST00000612460.4:c.490_491dup	ENSP00000481037.1:p.Trp164CysfsTer7
ENST00000613002.4:c.451+120_451+121dup	ENSP00000478154.1:n.451+120_451+121dup
ENST00000613634.4:n.810_811dup
ENST00000615658.4:n.984_985dup
ENST00000615986.4:c.*308_*309dup	ENSP00000480133.1:n.*308_*309dup
ENST00000620808.4:c.*170-289_*170-288dup	ENSP00000479311.1:n.*170-289_*170-288dup
NM_000116.4:c.580_581dup	NP_000107.1:p.Trp194CysfsTer7
NM_001303465.1:c.595+120_595+121dup	NP_001290394.1:n.595+120_595+121dup
NM_181311.3:c.490_491dup	NP_851828.1:p.Trp164CysfsTer7
NM_181312.3:c.541+120_541+121dup	NP_851829.1:n.541+120_541+121dup
NM_181313.3:c.451+120_451+121dup	NP_851830.1:n.451+120_451+121dup
NR_024048.2:n.922_923dup
XM_006724836.1:c.634_635dup	XP_006724899.1:p.Trp212CysfsTer7
XM_006724837.1:c.505+120_505+121dup	XP_006724900.1:n.505+120_505+121dup
XM_006724839.1:c.505+120_505+121dup	XP_006724902.1:n.505+120_505+121dup
XM_006724841.2:c.373_374dup	XP_006724904.1:p.Trp125CysfsTer7
XM_006724842.2:c.283_284dup	XP_006724905.1:p.Trp95CysfsTer7
XM_011531189.1:c.425-289_425-288dup	XP_011529491.1:n.425-289_425-288dup
XM_011531190.1:c.373_374dup	XP_011529492.1:p.Trp125CysfsTer7
XM_011531191.1:c.304_305dup	XP_011529493.1:p.Trp102CysfsTer7
XM_011531192.1:c.301_302dup	XP_011529494.1:p.Trp101CysfsTer7
XR_938511.1:n.928_929dup
XM_006724841.4:c.373_374dup	XP_006724904.1:p.Trp125CysfsTer7
XM_006724842.4:c.283_284dup	XP_006724905.1:p.Trp95CysfsTer7
XM_011531191.2:c.304_305dup	XP_011529493.1:p.Trp102CysfsTer7
XM_017029761.1:c.451+120_451+121dup	XP_016885250.1:n.451+120_451+121dup
XM_017029762.1:c.544_545dup	XP_016885251.1:p.Trp182CysfsTer7
XM_017029763.1:c.371-289_371-288dup	XP_016885252.1:n.371-289_371-288dup
XM_017029764.1:c.301_302dup	XP_016885253.1:p.Trp101CysfsTer7
XM_017029765.2:c.244+120_244+121dup	XP_016885254.1:n.244+120_244+121dup
XM_024452431.1:c.425-289_425-288dup	XP_024308199.1:n.425-289_425-288dup
NM_000116.5:c.580_581dup MANE Select	NP_000107.1:p.Trp194CysfsTer7
NM_001303465.2:c.595+120_595+121dup	NP_001290394.1:n.595+120_595+121dup
NM_181311.4:c.490_491dup	NP_851828.1:p.Trp164CysfsTer7
NM_181312.4:c.541+120_541+121dup	NP_851829.1:n.541+120_541+121dup
NM_181313.4:c.451+120_451+121dup	NP_851830.1:n.451+120_451+121dup
NR_024048.3:n.901_902dup