Canonical Allele Identifier: CA2695120201

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420345-G-GCTCCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420347_154420348insCCTCCT , CM000685.2:g.154420347_154420348insCCTCCT	GRCh38
NC_000023.10:g.153648686_153648687insCCTCCT , CM000685.1:g.153648686_153648687insCCTCCT	GRCh37
NC_000023.9:g.153301880_153301881insCCTCCT	NCBI36
NG_009634.1:g.13810_13811insCCTCCT
NG_009634.2:g.13813_13814insCCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1509+83_1509+84insCCTCCT
ENST00000698317.1:n.2125+83_2125+84insCCTCCT
ENST00000698318.1:n.1908+83_1908+84insCCTCCT
ENST00000698319.1:n.1271+83_1271+84insCCTCCT
ENST00000698320.1:n.1159+83_1159+84insCCTCCT
ENST00000470127.2:n.1172+83_1172+84insCCTCCT
ENST00000475699.6:c.663+83_663+84insCCTCCT	ENSP00000419854.3:n.663+83_663+84insCCTCCT
ENST00000483674.3:n.581+83_581+84insCCTCCT
ENST00000601016.6:c.699+83_699+84insCCTCCT MANE Select	ENSP00000469981.1:n.699+83_699+84insCCTCCT
ENST00000612012.5:c.657+83_657+84insCCTCCT	ENSP00000482070.2:n.657+83_657+84insCCTCCT
ENST00000612460.5:c.609+83_609+84insCCTCCT	ENSP00000481037.1:n.609+83_609+84insCCTCCT
ENST00000614595.2:n.2046+83_2046+84insCCTCCT
ENST00000615658.5:n.1288+83_1288+84insCCTCCT
ENST00000616020.5:c.711+83_711+84insCCTCCT	ENSP00000483636.2:n.711+83_711+84insCCTCCT
ENST00000617701.5:c.*712+83_*712+84insCCTCCT	ENSP00000481645.1:n.*712+83_*712+84insCCTCCT
ENST00000651139.1:c.-197_-196insCCTCCT	ENSP00000498957.1:n.-197_-196insCCTCCT
ENST00000652354.1:c.381+83_381+84insCCTCCT	ENSP00000498734.1:n.381+83_381+84insCCTCCT
ENST00000652358.1:c.492+83_492+84insCCTCCT	ENSP00000498464.1:n.492+83_492+84insCCTCCT
ENST00000652390.1:c.618+83_618+84insCCTCCT	ENSP00000498858.1:n.618+83_618+84insCCTCCT
ENST00000652476.1:n.1365+83_1365+84insCCTCCT
ENST00000652644.1:c.312+83_312+84insCCTCCT	ENSP00000498496.1:n.312+83_312+84insCCTCCT
ENST00000652682.1:c.756+83_756+84insCCTCCT	ENSP00000498288.1:n.756+83_756+84insCCTCCT
ENST00000652685.1:n.1052+83_1052+84insCCTCCT
ENST00000369776.8:c.609+83_609+84insCCTCCT	ENSP00000358791.4:n.609+83_609+84insCCTCCT
ENST00000426231.5:c.696+83_696+84insCCTCCT
ENST00000475699.5:c.657+83_657+84insCCTCCT	ENSP00000419854.2:n.657+83_657+84insCCTCCT
ENST00000494912.5:n.1388+83_1388+84insCCTCCT
ENST00000498029.1:n.157+83_157+84insCCTCCT
ENST00000601016.5:c.699+83_699+84insCCTCCT	ENSP00000469981.1:n.699+83_699+84insCCTCCT
ENST00000612460.4:c.609+83_609+84insCCTCCT	ENSP00000481037.1:n.609+83_609+84insCCTCCT
ENST00000613002.4:c.567+83_567+84insCCTCCT	ENSP00000478154.1:n.567+83_567+84insCCTCCT
ENST00000615986.4:c.*427+83_*427+84insCCTCCT	ENSP00000480133.1:n.*427+83_*427+84insCCTCCT
NM_000116.4:c.699+83_699+84insCCTCCT	NP_000107.1:n.699+83_699+84insCCTCCT
NM_001303465.1:c.711+83_711+84insCCTCCT	NP_001290394.1:n.711+83_711+84insCCTCCT
NM_181311.3:c.609+83_609+84insCCTCCT	NP_851828.1:n.609+83_609+84insCCTCCT
NM_181312.3:c.657+83_657+84insCCTCCT	NP_851829.1:n.657+83_657+84insCCTCCT
NM_181313.3:c.567+83_567+84insCCTCCT	NP_851830.1:n.567+83_567+84insCCTCCT
NR_024048.2:n.1041+83_1041+84insCCTCCT
XM_006724836.1:c.753+83_753+84insCCTCCT	XP_006724899.1:n.753+83_753+84insCCTCCT
XM_006724837.1:c.738+83_738+84insCCTCCT	XP_006724900.1:n.738+83_738+84insCCTCCT
XM_006724839.1:c.621+83_621+84insCCTCCT	XP_006724902.1:n.621+83_621+84insCCTCCT
XM_006724841.2:c.492+83_492+84insCCTCCT	XP_006724904.1:n.492+83_492+84insCCTCCT
XM_006724842.2:c.402+83_402+84insCCTCCT	XP_006724905.1:n.402+83_402+84insCCTCCT
XM_011531189.1:c.540+83_540+84insCCTCCT	XP_011529491.1:n.540+83_540+84insCCTCCT
XM_011531190.1:c.492+83_492+84insCCTCCT	XP_011529492.1:n.492+83_492+84insCCTCCT
XM_011531191.1:c.423+83_423+84insCCTCCT	XP_011529493.1:n.423+83_423+84insCCTCCT
XM_011531192.1:c.420+83_420+84insCCTCCT	XP_011529494.1:n.420+83_420+84insCCTCCT
XR_938511.1:n.1047+83_1047+84insCCTCCT
XM_006724841.4:c.492+83_492+84insCCTCCT	XP_006724904.1:n.492+83_492+84insCCTCCT
XM_006724842.4:c.402+83_402+84insCCTCCT	XP_006724905.1:n.402+83_402+84insCCTCCT
XM_011531191.2:c.423+83_423+84insCCTCCT	XP_011529493.1:n.423+83_423+84insCCTCCT
XM_017029761.1:c.684+83_684+84insCCTCCT	XP_016885250.1:n.684+83_684+84insCCTCCT
XM_017029762.1:c.663+83_663+84insCCTCCT	XP_016885251.1:n.663+83_663+84insCCTCCT
XM_017029763.1:c.486+83_486+84insCCTCCT	XP_016885252.1:n.486+83_486+84insCCTCCT
XM_017029764.1:c.420+83_420+84insCCTCCT	XP_016885253.1:n.420+83_420+84insCCTCCT
XM_017029765.2:c.360+83_360+84insCCTCCT	XP_016885254.1:n.360+83_360+84insCCTCCT
XM_024452431.1:c.657+83_657+84insCCTCCT	XP_024308199.1:n.657+83_657+84insCCTCCT
NM_000116.5:c.699+83_699+84insCCTCCT MANE Select	NP_000107.1:n.699+83_699+84insCCTCCT
NM_001303465.2:c.711+83_711+84insCCTCCT	NP_001290394.1:n.711+83_711+84insCCTCCT
NM_181311.4:c.609+83_609+84insCCTCCT	NP_851828.1:n.609+83_609+84insCCTCCT
NM_181312.4:c.657+83_657+84insCCTCCT	NP_851829.1:n.657+83_657+84insCCTCCT
NM_181313.4:c.567+83_567+84insCCTCCT	NP_851830.1:n.567+83_567+84insCCTCCT
NR_024048.3:n.1020+83_1020+84insCCTCCT