Canonical Allele Identifier: CA2466677790

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420704_154420706delinsTCG , CM000685.2:g.154420704_154420706delinsTCG	GRCh38
NC_000023.10:g.153649043_153649045delinsTCG , CM000685.1:g.153649043_153649045delinsTCG	GRCh37
NC_000023.9:g.153302237_153302239delinsTCG	NCBI36
NG_009634.1:g.14167_14169delinsTCG
NG_009634.2:g.14170_14172delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1556_1558delinsTCG
ENST00000698317.1:n.2172_2174delinsTCG
ENST00000698318.1:n.1955_1957delinsTCG
ENST00000698319.1:n.1318_1320delinsTCG
ENST00000698320.1:n.1206_1208delinsTCG
ENST00000470127.2:n.1219_1221delinsTCG
ENST00000475699.6:c.710_712delinsTCG	ENSP00000419854.3:p.Leu237=
ENST00000483674.3:n.628_630delinsTCG
ENST00000601016.6:c.746_748delinsTCG MANE Select	ENSP00000469981.1:p.Leu249=
ENST00000612012.5:c.704_706delinsTCG	ENSP00000482070.2:p.Leu235=
ENST00000612460.5:c.656_658delinsTCG	ENSP00000481037.1:p.Leu219=
ENST00000614595.2:n.2093_2095delinsTCG
ENST00000615658.5:n.1335_1337delinsTCG
ENST00000616020.5:c.758_760delinsTCG	ENSP00000483636.2:p.Leu253=
ENST00000617701.5:c.*759_*761delinsTCG	ENSP00000481645.1:n.*759_*761delinsTCG
ENST00000651139.1:c.-38_-36delinsTCG	ENSP00000498957.1:n.-38_-36delinsTCG
ENST00000652354.1:c.428_430delinsTCG	ENSP00000498734.1:p.Leu143=
ENST00000652358.1:c.539_541delinsTCG	ENSP00000498464.1:p.Leu180=
ENST00000652390.1:c.665_667delinsTCG	ENSP00000498858.1:p.Leu222=
ENST00000652476.1:n.1412_1414delinsTCG
ENST00000652644.1:c.359_361delinsTCG	ENSP00000498496.1:p.Leu120=
ENST00000652682.1:c.803_805delinsTCG	ENSP00000498288.1:p.Leu268=
ENST00000652685.1:n.1099_1101delinsTCG
ENST00000369776.8:c.656_658delinsTCG	ENSP00000358791.4:p.Leu219=
ENST00000426231.5:c.743_745delinsTCG
ENST00000475699.5:c.704_706delinsTCG	ENSP00000419854.2:p.Leu235=
ENST00000494912.5:n.1435_1437delinsTCG
ENST00000498029.1:n.204_206delinsTCG
ENST00000601016.5:c.746_748delinsTCG	ENSP00000469981.1:p.Leu249=
ENST00000612460.4:c.656_658delinsTCG	ENSP00000481037.1:p.Leu219=
ENST00000613002.4:c.614_616delinsTCG	ENSP00000478154.1:p.Leu205=
ENST00000615986.4:c.*474_*476delinsTCG	ENSP00000480133.1:n.*474_*476delinsTCG
NM_000116.4:c.746_748delinsTCG	NP_000107.1:p.Leu249=
NM_001303465.1:c.758_760delinsTCG	NP_001290394.1:p.Leu253=
NM_181311.3:c.656_658delinsTCG	NP_851828.1:p.Leu219=
NM_181312.3:c.704_706delinsTCG	NP_851829.1:p.Leu235=
NM_181313.3:c.614_616delinsTCG	NP_851830.1:p.Leu205=
NR_024048.2:n.1088_1090delinsTCG
XM_006724836.1:c.800_802delinsTCG	XP_006724899.1:p.Leu267=
XM_006724837.1:c.785_787delinsTCG	XP_006724900.1:p.Leu262=
XM_006724839.1:c.668_670delinsTCG	XP_006724902.1:p.Leu223=
XM_006724841.2:c.539_541delinsTCG	XP_006724904.1:p.Leu180=
XM_006724842.2:c.449_451delinsTCG	XP_006724905.1:p.Leu150=
XM_011531189.1:c.587_589delinsTCG	XP_011529491.1:p.Leu196=
XM_011531190.1:c.539_541delinsTCG	XP_011529492.1:p.Leu180=
XM_011531191.1:c.470_472delinsTCG	XP_011529493.1:p.Leu157=
XM_011531192.1:c.467_469delinsTCG	XP_011529494.1:p.Leu156=
XR_938511.1:n.1094_1096delinsTCG
XM_006724841.4:c.539_541delinsTCG	XP_006724904.1:p.Leu180=
XM_006724842.4:c.449_451delinsTCG	XP_006724905.1:p.Leu150=
XM_011531191.2:c.470_472delinsTCG	XP_011529493.1:p.Leu157=
XM_017029761.1:c.731_733delinsTCG	XP_016885250.1:p.Leu244=
XM_017029762.1:c.710_712delinsTCG	XP_016885251.1:p.Leu237=
XM_017029763.1:c.533_535delinsTCG	XP_016885252.1:p.Leu178=
XM_017029764.1:c.467_469delinsTCG	XP_016885253.1:p.Leu156=
XM_017029765.2:c.407_409delinsTCG	XP_016885254.1:p.Leu136=
XM_024452431.1:c.704_706delinsTCG	XP_024308199.1:p.Leu235=
NM_000116.5:c.746_748delinsTCG MANE Select	NP_000107.1:p.Leu249=
NM_001303465.2:c.758_760delinsTCG	NP_001290394.1:p.Leu253=
NM_181311.4:c.656_658delinsTCG	NP_851828.1:p.Leu219=
NM_181312.4:c.704_706delinsTCG	NP_851829.1:p.Leu235=
NM_181313.4:c.614_616delinsTCG	NP_851830.1:p.Leu205=
NR_024048.3:n.1067_1069delinsTCG