Canonical Allele Identifier: CA2466674901

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412119_154412120delinsAG , CM000685.2:g.154412119_154412120delinsAG	GRCh38
NC_000023.10:g.153640456_153640457delinsAG , CM000685.1:g.153640456_153640457delinsAG	GRCh37
NC_000023.9:g.153293650_153293651delinsAG	NCBI36
NG_009634.1:g.5580_5581delinsAG
NG_012884.2:g.4969_4970delinsCT
NG_009634.2:g.5585_5586delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.571_572delinsAG
ENST00000698235.1:n.130_131delinsAG
ENST00000698317.1:n.105_106delinsAG
ENST00000475699.6:c.197_198delinsAG	ENSP00000419854.3:p.Glu66=
ENST00000476800.2:n.108_109delinsAG
ENST00000483674.3:n.34_35delinsAG
ENST00000601016.6:c.143_144delinsAG MANE Select	ENSP00000469981.1:p.Glu48=
ENST00000612012.5:c.143_144delinsAG	ENSP00000482070.2:p.Glu48=
ENST00000612460.5:c.143_144delinsAG	ENSP00000481037.1:p.Glu48=
ENST00000614595.2:n.501_502delinsAG
ENST00000615658.5:n.456_457delinsAG
ENST00000616020.5:c.197_198delinsAG	ENSP00000483636.2:p.Glu66=
ENST00000617701.5:c.143_144delinsAG	ENSP00000481645.1:p.Glu48=
ENST00000621647.2:n.196_197delinsAG
ENST00000652358.1:c.-57+167_-57+168delinsAG	ENSP00000498464.1:n.-57+167_-57+168delinsAG
ENST00000652390.1:c.62_63delinsAG	ENSP00000498858.1:p.Glu21=
ENST00000652476.1:n.304_305delinsAG
ENST00000652682.1:c.143_144delinsAG	ENSP00000498288.1:p.Glu48=
ENST00000652685.1:n.195_196delinsAG
ENST00000369776.8:c.163+113_163+114delinsAG	ENSP00000358791.4:n.163+113_163+114delinsAG
ENST00000439735.2:c.143_144delinsAG	ENSP00000398193.1:p.Glu48=
ENST00000475699.5:c.143_144delinsAG	ENSP00000419854.2:p.Glu48=
ENST00000601016.5:c.143_144delinsAG	ENSP00000469981.1:p.Glu48=
ENST00000612012.4:c.197_198delinsAG	ENSP00000482070.1:p.Glu66=
ENST00000612460.4:c.143_144delinsAG	ENSP00000481037.1:p.Glu48=
ENST00000613002.4:c.143_144delinsAG	ENSP00000478154.1:p.Glu48=
ENST00000613634.4:n.463_464delinsAG
ENST00000614595.1:n.362_363delinsAG
ENST00000615658.4:n.469_470delinsAG
ENST00000615986.4:c.143_144delinsAG	ENSP00000480133.1:p.Glu48=
ENST00000616020.4:c.197_198delinsAG	ENSP00000483636.1:p.Glu66=
ENST00000617701.4:c.143_144delinsAG	ENSP00000481645.1:p.Glu48=
ENST00000620808.4:c.143_144delinsAG	ENSP00000479311.1:p.Glu48=
ENST00000621647.1:n.428_429delinsAG
NM_000116.4:c.143_144delinsAG	NP_000107.1:p.Glu48=
NM_001303465.1:c.197_198delinsAG	NP_001290394.1:p.Glu66=
NM_181311.3:c.143_144delinsAG	NP_851828.1:p.Glu48=
NM_181312.3:c.143_144delinsAG	NP_851829.1:p.Glu48=
NM_181313.3:c.143_144delinsAG	NP_851830.1:p.Glu48=
NR_024048.2:n.469_470delinsAG
XM_006724836.1:c.197_198delinsAG	XP_006724899.1:p.Glu66=
XM_006724837.1:c.197_198delinsAG	XP_006724900.1:p.Glu66=
XM_006724839.1:c.197_198delinsAG	XP_006724902.1:p.Glu66=
XM_006724841.2:c.-152_-151delinsAG	XP_006724904.1:n.-152_-151delinsAG
XM_006724842.2:c.-152_-151delinsAG	XP_006724905.1:n.-152_-151delinsAG
XM_011531189.1:c.197_198delinsAG	XP_011529491.1:p.Glu66=
XR_938511.1:n.500_501delinsAG
XM_006724841.4:c.-152_-151delinsAG	XP_006724904.1:n.-152_-151delinsAG
XM_006724842.4:c.-152_-151delinsAG	XP_006724905.1:n.-152_-151delinsAG
XM_017029761.1:c.143_144delinsAG	XP_016885250.1:p.Glu48=
XM_017029762.1:c.197_198delinsAG	XP_016885251.1:p.Glu66=
XM_017029763.1:c.143_144delinsAG	XP_016885252.1:p.Glu48=
XM_017029765.2:c.-152_-151delinsAG	XP_016885254.1:n.-152_-151delinsAG
XM_024452431.1:c.197_198delinsAG	XP_024308199.1:p.Glu66=
NM_000116.5:c.143_144delinsAG MANE Select	NP_000107.1:p.Glu48=
NM_001303465.2:c.197_198delinsAG	NP_001290394.1:p.Glu66=
NM_181311.4:c.143_144delinsAG	NP_851828.1:p.Glu48=
NM_181312.4:c.143_144delinsAG	NP_851829.1:p.Glu48=
NM_181313.4:c.143_144delinsAG	NP_851830.1:p.Glu48=
NR_024048.3:n.448_449delinsAG