Canonical Allele Identifier: CA2695123555

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154419798-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419799_154419800del , CM000685.2:g.154419799_154419800del	GRCh38
NC_000023.10:g.153648138_153648139del , CM000685.1:g.153648138_153648139del	GRCh37
NC_000023.9:g.153301332_153301333del	NCBI36
NG_009634.1:g.13262_13263del
NG_009634.2:g.13265_13266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1161_1162del
ENST00000698317.1:n.1777_1778del
ENST00000698318.1:n.1560_1561del
ENST00000698319.1:n.923_924del
ENST00000698320.1:n.811_812del
ENST00000470127.2:n.824_825del
ENST00000475699.6:c.547+53_547+54del	ENSP00000419854.3:n.547+53_547+54del
ENST00000483674.3:n.465+53_465+54del
ENST00000601016.6:c.583+53_583+54del MANE Select	ENSP00000469981.1:n.583+53_583+54del
ENST00000612012.5:c.541+176_541+177del	ENSP00000482070.2:n.541+176_541+177del
ENST00000612460.5:c.493+53_493+54del	ENSP00000481037.1:n.493+53_493+54del
ENST00000614595.2:n.1930+53_1930+54del
ENST00000615658.5:n.940_941del
ENST00000616020.5:c.595+176_595+177del	ENSP00000483636.2:n.595+176_595+177del
ENST00000617701.5:c.*364_*365del	ENSP00000481645.1:n.*364_*365del
ENST00000652354.1:c.265+176_265+177del	ENSP00000498734.1:n.265+176_265+177del
ENST00000652358.1:c.376+53_376+54del	ENSP00000498464.1:n.376+53_376+54del
ENST00000652390.1:c.502+53_502+54del	ENSP00000498858.1:n.502+53_502+54del
ENST00000652476.1:n.1017_1018del
ENST00000652644.1:c.196+53_196+54del	ENSP00000498496.1:n.196+53_196+54del
ENST00000652682.1:c.640+53_640+54del	ENSP00000498288.1:n.640+53_640+54del
ENST00000652685.1:n.704_705del
ENST00000369776.8:c.376+176_376+177del	ENSP00000358791.4:n.376+176_376+177del
ENST00000426231.5:c.580+53_580+54del
ENST00000439735.2:c.490+53_490+54del	ENSP00000398193.1:n.490+53_490+54del
ENST00000470127.1:n.162+53_162+54del
ENST00000475699.5:c.541+176_541+177del	ENSP00000419854.2:n.541+176_541+177del
ENST00000476679.5:n.630_631del
ENST00000494912.5:n.1272+53_1272+54del
ENST00000601016.5:c.583+53_583+54del	ENSP00000469981.1:n.583+53_583+54del
ENST00000612012.4:c.547+53_547+54del	ENSP00000482070.1:n.547+53_547+54del
ENST00000612460.4:c.493+53_493+54del	ENSP00000481037.1:n.493+53_493+54del
ENST00000613002.4:c.451+176_451+177del	ENSP00000478154.1:n.451+176_451+177del
ENST00000613634.4:n.866_867del
ENST00000615658.4:n.1040_1041del
ENST00000615986.4:c.*311+53_*311+54del	ENSP00000480133.1:n.*311+53_*311+54del
ENST00000620808.4:c.*170-233_*170-232del	ENSP00000479311.1:n.*170-233_*170-232del
NM_000116.4:c.583+53_583+54del	NP_000107.1:n.583+53_583+54del
NM_001303465.1:c.595+176_595+177del	NP_001290394.1:n.595+176_595+177del
NM_181311.3:c.493+53_493+54del	NP_851828.1:n.493+53_493+54del
NM_181312.3:c.541+176_541+177del	NP_851829.1:n.541+176_541+177del
NM_181313.3:c.451+176_451+177del	NP_851830.1:n.451+176_451+177del
NR_024048.2:n.925+53_925+54del
XM_006724836.1:c.637+53_637+54del	XP_006724899.1:n.637+53_637+54del
XM_006724837.1:c.505+176_505+177del	XP_006724900.1:n.505+176_505+177del
XM_006724839.1:c.505+176_505+177del	XP_006724902.1:n.505+176_505+177del
XM_006724841.2:c.376+53_376+54del	XP_006724904.1:n.376+53_376+54del
XM_006724842.2:c.286+53_286+54del	XP_006724905.1:n.286+53_286+54del
XM_011531189.1:c.425-233_425-232del	XP_011529491.1:n.425-233_425-232del
XM_011531190.1:c.376+53_376+54del	XP_011529492.1:n.376+53_376+54del
XM_011531191.1:c.307+53_307+54del	XP_011529493.1:n.307+53_307+54del
XM_011531192.1:c.304+53_304+54del	XP_011529494.1:n.304+53_304+54del
XR_938511.1:n.931+53_931+54del
XM_006724841.4:c.376+53_376+54del	XP_006724904.1:n.376+53_376+54del
XM_006724842.4:c.286+53_286+54del	XP_006724905.1:n.286+53_286+54del
XM_011531191.2:c.307+53_307+54del	XP_011529493.1:n.307+53_307+54del
XM_017029761.1:c.451+176_451+177del	XP_016885250.1:n.451+176_451+177del
XM_017029762.1:c.547+53_547+54del	XP_016885251.1:n.547+53_547+54del
XM_017029763.1:c.371-233_371-232del	XP_016885252.1:n.371-233_371-232del
XM_017029764.1:c.304+53_304+54del	XP_016885253.1:n.304+53_304+54del
XM_017029765.2:c.244+176_244+177del	XP_016885254.1:n.244+176_244+177del
XM_024452431.1:c.425-233_425-232del	XP_024308199.1:n.425-233_425-232del
NM_000116.5:c.583+53_583+54del MANE Select	NP_000107.1:n.583+53_583+54del
NM_001303465.2:c.595+176_595+177del	NP_001290394.1:n.595+176_595+177del
NM_181311.4:c.493+53_493+54del	NP_851828.1:n.493+53_493+54del
NM_181312.4:c.541+176_541+177del	NP_851829.1:n.541+176_541+177del
NM_181313.4:c.451+176_451+177del	NP_851830.1:n.451+176_451+177del
NR_024048.3:n.904+53_904+54del