Canonical Allele Identifier: CA2824301265
Gene: TAFAZZIN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420374_154420375insCCAACCACCAAACACACCCAAC , CM000685.2:g.154420374_154420375insCCAACCACCAAACACACCCAAC GRCh38
NC_000023.10:g.153648713_153648714insCCAACCACCAAACACACCCAAC , CM000685.1:g.153648713_153648714insCCAACCACCAAACACACCCAAC GRCh37
NC_000023.9:g.153301907_153301908insCCAACCACCAAACACACCCAAC NCBI36
NG_009634.1:g.13837_13838insCCAACCACCAAACACACCCAAC
NG_009634.2:g.13840_13841insCCAACCACCAAACACACCCAAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1509+110_1509+111insCCAACCACCAAACACACCCAAC
ENST00000698317.1:n.2125+110_2125+111insCCAACCACCAAACACACCCAAC
ENST00000698318.1:n.1908+110_1908+111insCCAACCACCAAACACACCCAAC
ENST00000698319.1:n.1271+110_1271+111insCCAACCACCAAACACACCCAAC
ENST00000698320.1:n.1159+110_1159+111insCCAACCACCAAACACACCCAAC
ENST00000470127.2:n.1172+110_1172+111insCCAACCACCAAACACACCCAAC
ENST00000475699.6:c.663+110_663+111insCCAACCACCAAACACACCCAAC ENSP00000419854.3:n.663+110_663+111insCCAACCACCAAACACACCCAAC
ENST00000483674.3:n.581+110_581+111insCCAACCACCAAACACACCCAAC
ENST00000601016.6:c.699+110_699+111insCCAACCACCAAACACACCCAAC MANE Select ENSP00000469981.1:n.699+110_699+111insCCAACCACCAAACACACCCAAC
ENST00000612012.5:c.657+110_657+111insCCAACCACCAAACACACCCAAC ENSP00000482070.2:n.657+110_657+111insCCAACCACCAAACACACCCAAC
ENST00000612460.5:c.609+110_609+111insCCAACCACCAAACACACCCAAC ENSP00000481037.1:n.609+110_609+111insCCAACCACCAAACACACCCAAC
ENST00000614595.2:n.2046+110_2046+111insCCAACCACCAAACACACCCAAC
ENST00000615658.5:n.1288+110_1288+111insCCAACCACCAAACACACCCAAC
ENST00000616020.5:c.711+110_711+111insCCAACCACCAAACACACCCAAC ENSP00000483636.2:n.711+110_711+111insCCAACCACCAAACACACCCAAC
ENST00000617701.5:c.*712+110_*712+111insCCAACCACCAAACACACCCAAC ENSP00000481645.1:n.*712+110_*712+111insCCAACCACCAAACACACCCAA...
ENST00000651139.1:c.-170_-169insCCAACCACCAAACACACCCAAC ENSP00000498957.1:n.-170_-169insCCAACCACCAAACACACCCAAC
ENST00000652354.1:c.381+110_381+111insCCAACCACCAAACACACCCAAC ENSP00000498734.1:n.381+110_381+111insCCAACCACCAAACACACCCAAC
ENST00000652358.1:c.492+110_492+111insCCAACCACCAAACACACCCAAC ENSP00000498464.1:n.492+110_492+111insCCAACCACCAAACACACCCAAC
ENST00000652390.1:c.618+110_618+111insCCAACCACCAAACACACCCAAC ENSP00000498858.1:n.618+110_618+111insCCAACCACCAAACACACCCAAC
ENST00000652476.1:n.1365+110_1365+111insCCAACCACCAAACACACCCAAC
ENST00000652644.1:c.312+110_312+111insCCAACCACCAAACACACCCAAC ENSP00000498496.1:n.312+110_312+111insCCAACCACCAAACACACCCAAC
ENST00000652682.1:c.756+110_756+111insCCAACCACCAAACACACCCAAC ENSP00000498288.1:n.756+110_756+111insCCAACCACCAAACACACCCAAC
ENST00000652685.1:n.1052+110_1052+111insCCAACCACCAAACACACCCAAC
ENST00000369776.8:c.609+110_609+111insCCAACCACCAAACACACCCAAC ENSP00000358791.4:n.609+110_609+111insCCAACCACCAAACACACCCAAC
ENST00000426231.5:c.696+110_696+111insCCAACCACCAAACACACCCAAC
ENST00000475699.5:c.657+110_657+111insCCAACCACCAAACACACCCAAC ENSP00000419854.2:n.657+110_657+111insCCAACCACCAAACACACCCAAC
ENST00000494912.5:n.1388+110_1388+111insCCAACCACCAAACACACCCAAC
ENST00000498029.1:n.157+110_157+111insCCAACCACCAAACACACCCAAC
ENST00000601016.5:c.699+110_699+111insCCAACCACCAAACACACCCAAC ENSP00000469981.1:n.699+110_699+111insCCAACCACCAAACACACCCAAC
ENST00000612460.4:c.609+110_609+111insCCAACCACCAAACACACCCAAC ENSP00000481037.1:n.609+110_609+111insCCAACCACCAAACACACCCAAC
ENST00000613002.4:c.567+110_567+111insCCAACCACCAAACACACCCAAC ENSP00000478154.1:n.567+110_567+111insCCAACCACCAAACACACCCAAC
ENST00000615986.4:c.*427+110_*427+111insCCAACCACCAAACACACCCAAC ENSP00000480133.1:n.*427+110_*427+111insCCAACCACCAAACACACCCAA...
NM_000116.4:c.699+110_699+111insCCAACCACCAAACACACCCAAC NP_000107.1:n.699+110_699+111insCCAACCACCAAACACACCCAAC
NM_001303465.1:c.711+110_711+111insCCAACCACCAAACACACCCAAC NP_001290394.1:n.711+110_711+111insCCAACCACCAAACACACCCAAC
NM_181311.3:c.609+110_609+111insCCAACCACCAAACACACCCAAC NP_851828.1:n.609+110_609+111insCCAACCACCAAACACACCCAAC
NM_181312.3:c.657+110_657+111insCCAACCACCAAACACACCCAAC NP_851829.1:n.657+110_657+111insCCAACCACCAAACACACCCAAC
NM_181313.3:c.567+110_567+111insCCAACCACCAAACACACCCAAC NP_851830.1:n.567+110_567+111insCCAACCACCAAACACACCCAAC
NR_024048.2:n.1041+110_1041+111insCCAACCACCAAACACACCCAAC
XM_006724836.1:c.753+110_753+111insCCAACCACCAAACACACCCAAC XP_006724899.1:n.753+110_753+111insCCAACCACCAAACACACCCAAC
XM_006724837.1:c.738+110_738+111insCCAACCACCAAACACACCCAAC XP_006724900.1:n.738+110_738+111insCCAACCACCAAACACACCCAAC
XM_006724839.1:c.621+110_621+111insCCAACCACCAAACACACCCAAC XP_006724902.1:n.621+110_621+111insCCAACCACCAAACACACCCAAC
XM_006724841.2:c.492+110_492+111insCCAACCACCAAACACACCCAAC XP_006724904.1:n.492+110_492+111insCCAACCACCAAACACACCCAAC
XM_006724842.2:c.402+110_402+111insCCAACCACCAAACACACCCAAC XP_006724905.1:n.402+110_402+111insCCAACCACCAAACACACCCAAC
XM_011531189.1:c.540+110_540+111insCCAACCACCAAACACACCCAAC XP_011529491.1:n.540+110_540+111insCCAACCACCAAACACACCCAAC
XM_011531190.1:c.492+110_492+111insCCAACCACCAAACACACCCAAC XP_011529492.1:n.492+110_492+111insCCAACCACCAAACACACCCAAC
XM_011531191.1:c.423+110_423+111insCCAACCACCAAACACACCCAAC XP_011529493.1:n.423+110_423+111insCCAACCACCAAACACACCCAAC
XM_011531192.1:c.420+110_420+111insCCAACCACCAAACACACCCAAC XP_011529494.1:n.420+110_420+111insCCAACCACCAAACACACCCAAC
XR_938511.1:n.1047+110_1047+111insCCAACCACCAAACACACCCAAC
XM_006724841.4:c.492+110_492+111insCCAACCACCAAACACACCCAAC XP_006724904.1:n.492+110_492+111insCCAACCACCAAACACACCCAAC
XM_006724842.4:c.402+110_402+111insCCAACCACCAAACACACCCAAC XP_006724905.1:n.402+110_402+111insCCAACCACCAAACACACCCAAC
XM_011531191.2:c.423+110_423+111insCCAACCACCAAACACACCCAAC XP_011529493.1:n.423+110_423+111insCCAACCACCAAACACACCCAAC
XM_017029761.1:c.684+110_684+111insCCAACCACCAAACACACCCAAC XP_016885250.1:n.684+110_684+111insCCAACCACCAAACACACCCAAC
XM_017029762.1:c.663+110_663+111insCCAACCACCAAACACACCCAAC XP_016885251.1:n.663+110_663+111insCCAACCACCAAACACACCCAAC
XM_017029763.1:c.486+110_486+111insCCAACCACCAAACACACCCAAC XP_016885252.1:n.486+110_486+111insCCAACCACCAAACACACCCAAC
XM_017029764.1:c.420+110_420+111insCCAACCACCAAACACACCCAAC XP_016885253.1:n.420+110_420+111insCCAACCACCAAACACACCCAAC
XM_017029765.2:c.360+110_360+111insCCAACCACCAAACACACCCAAC XP_016885254.1:n.360+110_360+111insCCAACCACCAAACACACCCAAC
XM_024452431.1:c.657+110_657+111insCCAACCACCAAACACACCCAAC XP_024308199.1:n.657+110_657+111insCCAACCACCAAACACACCCAAC
NM_000116.5:c.699+110_699+111insCCAACCACCAAACACACCCAAC MANE Select NP_000107.1:n.699+110_699+111insCCAACCACCAAACACACCCAAC
NM_001303465.2:c.711+110_711+111insCCAACCACCAAACACACCCAAC NP_001290394.1:n.711+110_711+111insCCAACCACCAAACACACCCAAC
NM_181311.4:c.609+110_609+111insCCAACCACCAAACACACCCAAC NP_851828.1:n.609+110_609+111insCCAACCACCAAACACACCCAAC
NM_181312.4:c.657+110_657+111insCCAACCACCAAACACACCCAAC NP_851829.1:n.657+110_657+111insCCAACCACCAAACACACCCAAC
NM_181313.4:c.567+110_567+111insCCAACCACCAAACACACCCAAC NP_851830.1:n.567+110_567+111insCCAACCACCAAACACACCCAAC
NR_024048.3:n.1020+110_1020+111insCCAACCACCAAACACACCCAAC
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