Canonical Allele Identifier: CA2695120224

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420395-TAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420398_154420401del , CM000685.2:g.154420398_154420401del	GRCh38
NC_000023.10:g.153648737_153648740del , CM000685.1:g.153648737_153648740del	GRCh37
NC_000023.9:g.153301931_153301934del	NCBI36
NG_009634.1:g.13861_13864del
NG_009634.2:g.13864_13867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1509+134_1509+137del
ENST00000698317.1:n.2125+134_2125+137del
ENST00000698318.1:n.1908+134_1908+137del
ENST00000698319.1:n.1271+134_1271+137del
ENST00000698320.1:n.1159+134_1159+137del
ENST00000470127.2:n.1172+134_1172+137del
ENST00000475699.6:c.663+134_663+137del	ENSP00000419854.3:n.663+134_663+137del
ENST00000483674.3:n.581+134_581+137del
ENST00000601016.6:c.699+134_699+137del MANE Select	ENSP00000469981.1:n.699+134_699+137del
ENST00000612012.5:c.657+134_657+137del	ENSP00000482070.2:n.657+134_657+137del
ENST00000612460.5:c.609+134_609+137del	ENSP00000481037.1:n.609+134_609+137del
ENST00000614595.2:n.2046+134_2046+137del
ENST00000615658.5:n.1288+134_1288+137del
ENST00000616020.5:c.711+134_711+137del	ENSP00000483636.2:n.711+134_711+137del
ENST00000617701.5:c.*712+134_*712+137del	ENSP00000481645.1:n.*712+134_*712+137del
ENST00000651139.1:c.-146_-143del	ENSP00000498957.1:n.-146_-143del
ENST00000652354.1:c.381+134_381+137del	ENSP00000498734.1:n.381+134_381+137del
ENST00000652358.1:c.492+134_492+137del	ENSP00000498464.1:n.492+134_492+137del
ENST00000652390.1:c.618+134_618+137del	ENSP00000498858.1:n.618+134_618+137del
ENST00000652476.1:n.1365+134_1365+137del
ENST00000652644.1:c.312+134_312+137del	ENSP00000498496.1:n.312+134_312+137del
ENST00000652682.1:c.756+134_756+137del	ENSP00000498288.1:n.756+134_756+137del
ENST00000652685.1:n.1052+134_1052+137del
ENST00000369776.8:c.609+134_609+137del	ENSP00000358791.4:n.609+134_609+137del
ENST00000426231.5:c.696+134_696+137del
ENST00000475699.5:c.657+134_657+137del	ENSP00000419854.2:n.657+134_657+137del
ENST00000494912.5:n.1388+134_1388+137del
ENST00000498029.1:n.157+134_157+137del
ENST00000601016.5:c.699+134_699+137del	ENSP00000469981.1:n.699+134_699+137del
ENST00000612460.4:c.609+134_609+137del	ENSP00000481037.1:n.609+134_609+137del
ENST00000613002.4:c.567+134_567+137del	ENSP00000478154.1:n.567+134_567+137del
ENST00000615986.4:c.*427+134_*427+137del	ENSP00000480133.1:n.*427+134_*427+137del
NM_000116.4:c.699+134_699+137del	NP_000107.1:n.699+134_699+137del
NM_001303465.1:c.711+134_711+137del	NP_001290394.1:n.711+134_711+137del
NM_181311.3:c.609+134_609+137del	NP_851828.1:n.609+134_609+137del
NM_181312.3:c.657+134_657+137del	NP_851829.1:n.657+134_657+137del
NM_181313.3:c.567+134_567+137del	NP_851830.1:n.567+134_567+137del
NR_024048.2:n.1041+134_1041+137del
XM_006724836.1:c.753+134_753+137del	XP_006724899.1:n.753+134_753+137del
XM_006724837.1:c.738+134_738+137del	XP_006724900.1:n.738+134_738+137del
XM_006724839.1:c.621+134_621+137del	XP_006724902.1:n.621+134_621+137del
XM_006724841.2:c.492+134_492+137del	XP_006724904.1:n.492+134_492+137del
XM_006724842.2:c.402+134_402+137del	XP_006724905.1:n.402+134_402+137del
XM_011531189.1:c.540+134_540+137del	XP_011529491.1:n.540+134_540+137del
XM_011531190.1:c.492+134_492+137del	XP_011529492.1:n.492+134_492+137del
XM_011531191.1:c.423+134_423+137del	XP_011529493.1:n.423+134_423+137del
XM_011531192.1:c.420+134_420+137del	XP_011529494.1:n.420+134_420+137del
XR_938511.1:n.1047+134_1047+137del
XM_006724841.4:c.492+134_492+137del	XP_006724904.1:n.492+134_492+137del
XM_006724842.4:c.402+134_402+137del	XP_006724905.1:n.402+134_402+137del
XM_011531191.2:c.423+134_423+137del	XP_011529493.1:n.423+134_423+137del
XM_017029761.1:c.684+134_684+137del	XP_016885250.1:n.684+134_684+137del
XM_017029762.1:c.663+134_663+137del	XP_016885251.1:n.663+134_663+137del
XM_017029763.1:c.486+134_486+137del	XP_016885252.1:n.486+134_486+137del
XM_017029764.1:c.420+134_420+137del	XP_016885253.1:n.420+134_420+137del
XM_017029765.2:c.360+134_360+137del	XP_016885254.1:n.360+134_360+137del
XM_024452431.1:c.657+134_657+137del	XP_024308199.1:n.657+134_657+137del
NM_000116.5:c.699+134_699+137del MANE Select	NP_000107.1:n.699+134_699+137del
NM_001303465.2:c.711+134_711+137del	NP_001290394.1:n.711+134_711+137del
NM_181311.4:c.609+134_609+137del	NP_851828.1:n.609+134_609+137del
NM_181312.4:c.657+134_657+137del	NP_851829.1:n.657+134_657+137del
NM_181313.4:c.567+134_567+137del	NP_851830.1:n.567+134_567+137del
NR_024048.3:n.1020+134_1020+137del