Canonical Allele Identifier: CA2697544781

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2731745
• ClinVar RCV Id: RCV003513529

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413260_154413262del , CM000685.2:g.154413260_154413262del	GRCh38
NC_000023.10:g.153641597_153641599del , CM000685.1:g.153641597_153641599del	GRCh37
NC_000023.9:g.153294791_153294793del	NCBI36
NG_009634.1:g.6721_6723del
NG_012884.2:g.3832_3834del
NG_009634.2:g.6726_6728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.720_722del
ENST00000698235.1:n.279_281del
ENST00000698317.1:n.1246_1248del
ENST00000698318.1:n.1107_1109del
ENST00000470127.2:n.341_343del
ENST00000475699.6:c.338+8_338+10del	ENSP00000419854.3:n.338+8_338+10del
ENST00000476800.2:n.1249_1251del
ENST00000483674.3:n.175+8_175+10del
ENST00000601016.6:c.284+8_284+10del MANE Select	ENSP00000469981.1:n.284+8_284+10del
ENST00000612012.5:c.284+8_284+10del	ENSP00000482070.2:n.284+8_284+10del
ENST00000612460.5:c.284+8_284+10del	ENSP00000481037.1:n.284+8_284+10del
ENST00000614595.2:n.1642_1644del
ENST00000615658.5:n.597+8_597+10del
ENST00000616020.5:c.338+8_338+10del	ENSP00000483636.2:n.338+8_338+10del
ENST00000617701.5:c.*4_*6del	ENSP00000481645.1:n.*4_*6del
ENST00000621647.2:n.345_347del
ENST00000652354.1:c.8+8_8+10del	ENSP00000498734.1:n.8+8_8+10del
ENST00000652358.1:c.-3_-1del	ENSP00000498464.1:n.-3_-1del
ENST00000652390.1:c.203+8_203+10del	ENSP00000498858.1:n.203+8_203+10del
ENST00000652476.1:n.453_455del
ENST00000652682.1:c.284+8_284+10del	ENSP00000498288.1:n.284+8_284+10del
ENST00000652685.1:n.344_346del
ENST00000369776.8:c.209+8_209+10del	ENSP00000358791.4:n.209+8_209+10del
ENST00000426231.5:c.108_110del
ENST00000439735.2:c.284+8_284+10del	ENSP00000398193.1:n.284+8_284+10del
ENST00000475699.5:c.284+8_284+10del	ENSP00000419854.2:n.284+8_284+10del
ENST00000476679.5:n.197+8_197+10del
ENST00000476800.1:n.170_172del
ENST00000479875.1:n.313+8_313+10del
ENST00000483780.5:n.58+8_58+10del
ENST00000601016.5:c.284+8_284+10del	ENSP00000469981.1:n.284+8_284+10del
ENST00000612012.4:c.338+8_338+10del	ENSP00000482070.1:n.338+8_338+10del
ENST00000612460.4:c.284+8_284+10del	ENSP00000481037.1:n.284+8_284+10del
ENST00000613002.4:c.284+8_284+10del	ENSP00000478154.1:n.284+8_284+10del
ENST00000613634.4:n.604+8_604+10del
ENST00000615658.4:n.618_620del
ENST00000615986.4:c.*4_*6del	ENSP00000480133.1:n.*4_*6del
ENST00000616020.4:c.338+8_338+10del	ENSP00000483636.1:n.338+8_338+10del
ENST00000617701.4:c.*4_*6del	ENSP00000481645.1:n.*4_*6del
ENST00000620808.4:c.*4_*6del	ENSP00000479311.1:n.*4_*6del
ENST00000621647.1:n.577_579del
NM_000116.4:c.284+8_284+10del	NP_000107.1:n.284+8_284+10del
NM_001303465.1:c.338+8_338+10del	NP_001290394.1:n.338+8_338+10del
NM_181311.3:c.284+8_284+10del	NP_851828.1:n.284+8_284+10del
NM_181312.3:c.284+8_284+10del	NP_851829.1:n.284+8_284+10del
NM_181313.3:c.284+8_284+10del	NP_851830.1:n.284+8_284+10del
NR_024048.2:n.618_620del
XM_006724836.1:c.338+8_338+10del	XP_006724899.1:n.338+8_338+10del
XM_006724837.1:c.338+8_338+10del	XP_006724900.1:n.338+8_338+10del
XM_006724839.1:c.338+8_338+10del	XP_006724902.1:n.338+8_338+10del
XM_006724841.2:c.-3_-1del	XP_006724904.1:n.-3_-1del
XM_006724842.2:c.-3_-1del	XP_006724905.1:n.-3_-1del
XM_011531189.1:c.338+8_338+10del	XP_011529491.1:n.338+8_338+10del
XM_011531190.1:c.-3_-1del	XP_011529492.1:n.-3_-1del
XM_011531191.1:c.8+8_8+10del	XP_011529493.1:n.8+8_8+10del
XM_011531192.1:c.-106_-104del	XP_011529494.1:n.-106_-104del
XR_938511.1:n.641+8_641+10del
XM_006724841.4:c.-3_-1del	XP_006724904.1:n.-3_-1del
XM_006724842.4:c.-3_-1del	XP_006724905.1:n.-3_-1del
XM_011531191.2:c.8+8_8+10del	XP_011529493.1:n.8+8_8+10del
XM_017029761.1:c.284+8_284+10del	XP_016885250.1:n.284+8_284+10del
XM_017029762.1:c.338+8_338+10del	XP_016885251.1:n.338+8_338+10del
XM_017029763.1:c.284+8_284+10del	XP_016885252.1:n.284+8_284+10del
XM_017029764.1:c.-106_-104del	XP_016885253.1:n.-106_-104del
XM_017029765.2:c.-3_-1del	XP_016885254.1:n.-3_-1del
XM_024452431.1:c.338+8_338+10del	XP_024308199.1:n.338+8_338+10del
NM_000116.5:c.284+8_284+10del MANE Select	NP_000107.1:n.284+8_284+10del
NM_001303465.2:c.338+8_338+10del	NP_001290394.1:n.338+8_338+10del
NM_181311.4:c.284+8_284+10del	NP_851828.1:n.284+8_284+10del
NM_181312.4:c.284+8_284+10del	NP_851829.1:n.284+8_284+10del
NM_181313.4:c.284+8_284+10del	NP_851830.1:n.284+8_284+10del
NR_024048.3:n.597_599del