Canonical Allele Identifier: CA2466677480

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419789_154419790delinsAG , CM000685.2:g.154419789_154419790delinsAG	GRCh38
NC_000023.10:g.153648128_153648129delinsAG , CM000685.1:g.153648128_153648129delinsAG	GRCh37
NC_000023.9:g.153301322_153301323delinsAG	NCBI36
NG_009634.1:g.13252_13253delinsAG
NG_009634.2:g.13255_13256delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1151_1152delinsAG
ENST00000698317.1:n.1767_1768delinsAG
ENST00000698318.1:n.1550_1551delinsAG
ENST00000698319.1:n.913_914delinsAG
ENST00000698320.1:n.801_802delinsAG
ENST00000470127.2:n.814_815delinsAG
ENST00000475699.6:c.547+43_547+44delinsAG	ENSP00000419854.3:n.547+43_547+44delinsAG
ENST00000483674.3:n.465+43_465+44delinsAG
ENST00000601016.6:c.583+43_583+44delinsAG MANE Select	ENSP00000469981.1:n.583+43_583+44delinsAG
ENST00000612012.5:c.541+166_541+167delinsAG	ENSP00000482070.2:n.541+166_541+167delinsAG
ENST00000612460.5:c.493+43_493+44delinsAG	ENSP00000481037.1:n.493+43_493+44delinsAG
ENST00000614595.2:n.1930+43_1930+44delinsAG
ENST00000615658.5:n.930_931delinsAG
ENST00000616020.5:c.595+166_595+167delinsAG	ENSP00000483636.2:n.595+166_595+167delinsAG
ENST00000617701.5:c.*354_*355delinsAG	ENSP00000481645.1:n.*354_*355delinsAG
ENST00000652354.1:c.265+166_265+167delinsAG	ENSP00000498734.1:n.265+166_265+167delinsAG
ENST00000652358.1:c.376+43_376+44delinsAG	ENSP00000498464.1:n.376+43_376+44delinsAG
ENST00000652390.1:c.502+43_502+44delinsAG	ENSP00000498858.1:n.502+43_502+44delinsAG
ENST00000652476.1:n.1007_1008delinsAG
ENST00000652644.1:c.196+43_196+44delinsAG	ENSP00000498496.1:n.196+43_196+44delinsAG
ENST00000652682.1:c.640+43_640+44delinsAG	ENSP00000498288.1:n.640+43_640+44delinsAG
ENST00000652685.1:n.694_695delinsAG
ENST00000369776.8:c.376+166_376+167delinsAG	ENSP00000358791.4:n.376+166_376+167delinsAG
ENST00000426231.5:c.580+43_580+44delinsAG
ENST00000439735.2:c.490+43_490+44delinsAG	ENSP00000398193.1:n.490+43_490+44delinsAG
ENST00000470127.1:n.162+43_162+44delinsAG
ENST00000475699.5:c.541+166_541+167delinsAG	ENSP00000419854.2:n.541+166_541+167delinsAG
ENST00000476679.5:n.620_621delinsAG
ENST00000494912.5:n.1272+43_1272+44delinsAG
ENST00000601016.5:c.583+43_583+44delinsAG	ENSP00000469981.1:n.583+43_583+44delinsAG
ENST00000612012.4:c.547+43_547+44delinsAG	ENSP00000482070.1:n.547+43_547+44delinsAG
ENST00000612460.4:c.493+43_493+44delinsAG	ENSP00000481037.1:n.493+43_493+44delinsAG
ENST00000613002.4:c.451+166_451+167delinsAG	ENSP00000478154.1:n.451+166_451+167delinsAG
ENST00000613634.4:n.856_857delinsAG
ENST00000615658.4:n.1030_1031delinsAG
ENST00000615986.4:c.*311+43_*311+44delinsAG	ENSP00000480133.1:n.*311+43_*311+44delinsAG
ENST00000620808.4:c.*170-243_*170-242delinsAG	ENSP00000479311.1:n.*170-243_*170-242delinsAG
NM_000116.4:c.583+43_583+44delinsAG	NP_000107.1:n.583+43_583+44delinsAG
NM_001303465.1:c.595+166_595+167delinsAG	NP_001290394.1:n.595+166_595+167delinsAG
NM_181311.3:c.493+43_493+44delinsAG	NP_851828.1:n.493+43_493+44delinsAG
NM_181312.3:c.541+166_541+167delinsAG	NP_851829.1:n.541+166_541+167delinsAG
NM_181313.3:c.451+166_451+167delinsAG	NP_851830.1:n.451+166_451+167delinsAG
NR_024048.2:n.925+43_925+44delinsAG
XM_006724836.1:c.637+43_637+44delinsAG	XP_006724899.1:n.637+43_637+44delinsAG
XM_006724837.1:c.505+166_505+167delinsAG	XP_006724900.1:n.505+166_505+167delinsAG
XM_006724839.1:c.505+166_505+167delinsAG	XP_006724902.1:n.505+166_505+167delinsAG
XM_006724841.2:c.376+43_376+44delinsAG	XP_006724904.1:n.376+43_376+44delinsAG
XM_006724842.2:c.286+43_286+44delinsAG	XP_006724905.1:n.286+43_286+44delinsAG
XM_011531189.1:c.425-243_425-242delinsAG	XP_011529491.1:n.425-243_425-242delinsAG
XM_011531190.1:c.376+43_376+44delinsAG	XP_011529492.1:n.376+43_376+44delinsAG
XM_011531191.1:c.307+43_307+44delinsAG	XP_011529493.1:n.307+43_307+44delinsAG
XM_011531192.1:c.304+43_304+44delinsAG	XP_011529494.1:n.304+43_304+44delinsAG
XR_938511.1:n.931+43_931+44delinsAG
XM_006724841.4:c.376+43_376+44delinsAG	XP_006724904.1:n.376+43_376+44delinsAG
XM_006724842.4:c.286+43_286+44delinsAG	XP_006724905.1:n.286+43_286+44delinsAG
XM_011531191.2:c.307+43_307+44delinsAG	XP_011529493.1:n.307+43_307+44delinsAG
XM_017029761.1:c.451+166_451+167delinsAG	XP_016885250.1:n.451+166_451+167delinsAG
XM_017029762.1:c.547+43_547+44delinsAG	XP_016885251.1:n.547+43_547+44delinsAG
XM_017029763.1:c.371-243_371-242delinsAG	XP_016885252.1:n.371-243_371-242delinsAG
XM_017029764.1:c.304+43_304+44delinsAG	XP_016885253.1:n.304+43_304+44delinsAG
XM_017029765.2:c.244+166_244+167delinsAG	XP_016885254.1:n.244+166_244+167delinsAG
XM_024452431.1:c.425-243_425-242delinsAG	XP_024308199.1:n.425-243_425-242delinsAG
NM_000116.5:c.583+43_583+44delinsAG MANE Select	NP_000107.1:n.583+43_583+44delinsAG
NM_001303465.2:c.595+166_595+167delinsAG	NP_001290394.1:n.595+166_595+167delinsAG
NM_181311.4:c.493+43_493+44delinsAG	NP_851828.1:n.493+43_493+44delinsAG
NM_181312.4:c.541+166_541+167delinsAG	NP_851829.1:n.541+166_541+167delinsAG
NM_181313.4:c.451+166_451+167delinsAG	NP_851830.1:n.451+166_451+167delinsAG
NR_024048.3:n.904+43_904+44delinsAG