Canonical Allele Identifier: CA645373329

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 433548
• ClinVar RCV Id: RCV000503128
• dbSNP Id: rs1557194525
• MyVariant Identifiers: chrX:g.153649300del (hg19) ; chrX:g.154420961del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420961del , CM000685.2:g.154420961del	GRCh38
NC_000023.10:g.153649300del , CM000685.1:g.153649300del	GRCh37
NC_000023.9:g.153302494del	NCBI36
NG_009634.1:g.14424del
NG_009634.2:g.14427del

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1646del
ENST00000698317.1:n.2262del
ENST00000698318.1:n.2045del
ENST00000698319.1:n.1408del
ENST00000698320.1:n.1463del
ENST00000470127.2:n.1309del
ENST00000475699.6:c.800del	ENSP00000419854.3:p.Thr267IlefsTer?
ENST00000483674.3:n.718del
ENST00000601016.6:c.836del MANE Select	ENSP00000469981.1:p.Thr279IlefsTer?
ENST00000612012.5:c.794del	ENSP00000482070.2:p.Thr265IlefsTer?
ENST00000612460.5:c.746del	ENSP00000481037.1:p.Thr249IlefsTer?
ENST00000614595.2:n.2183del
ENST00000615658.5:n.1425del
ENST00000616020.5:c.848del	ENSP00000483636.2:p.Thr283IlefsTer?
ENST00000617701.5:c.*849del	ENSP00000481645.1:n.*849del
ENST00000651139.1:c.53del	ENSP00000498957.1:p.Thr18IlefsTer?
ENST00000652354.1:c.518del	ENSP00000498734.1:p.Thr173IlefsTer?
ENST00000652358.1:c.629del	ENSP00000498464.1:p.Thr210IlefsTer?
ENST00000652390.1:c.755del	ENSP00000498858.1:p.Thr252IlefsTer?
ENST00000652476.1:n.1502del
ENST00000652644.1:c.449del	ENSP00000498496.1:p.Thr150IlefsTer?
ENST00000652682.1:c.893del	ENSP00000498288.1:p.Thr298IlefsTer?
ENST00000652685.1:n.1189del
ENST00000369776.8:c.746del	ENSP00000358791.4:p.Thr249IlefsTer?
ENST00000426231.5:c.833del
ENST00000475699.5:c.794del	ENSP00000419854.2:p.Thr265IlefsTer?
ENST00000494912.5:n.1525del
ENST00000498029.1:n.294del
ENST00000601016.5:c.836del	ENSP00000469981.1:p.Thr279IlefsTer?
ENST00000612460.4:c.746del	ENSP00000481037.1:p.Thr249IlefsTer?
ENST00000613002.4:c.704del	ENSP00000478154.1:p.Thr235IlefsTer?
ENST00000615986.4:c.*564del	ENSP00000480133.1:n.*564del
NM_000116.4:c.836del	NP_000107.1:p.Thr279IlefsTer?
NM_001303465.1:c.848del	NP_001290394.1:p.Thr283IlefsTer?
NM_181311.3:c.746del	NP_851828.1:p.Thr249IlefsTer?
NM_181312.3:c.794del	NP_851829.1:p.Thr265IlefsTer?
NM_181313.3:c.704del	NP_851830.1:p.Thr235IlefsTer?
NR_024048.2:n.1178del
XM_006724836.1:c.890del	XP_006724899.1:p.Thr297IlefsTer?
XM_006724837.1:c.875del	XP_006724900.1:p.Thr292IlefsTer?
XM_006724839.1:c.758del	XP_006724902.1:p.Thr253IlefsTer?
XM_006724841.2:c.629del	XP_006724904.1:p.Thr210IlefsTer?
XM_006724842.2:c.539del	XP_006724905.1:p.Thr180IlefsTer?
XM_011531189.1:c.677del	XP_011529491.1:p.Thr226IlefsTer?
XM_011531190.1:c.629del	XP_011529492.1:p.Thr210IlefsTer?
XM_011531191.1:c.560del	XP_011529493.1:p.Thr187IlefsTer?
XM_011531192.1:c.557del	XP_011529494.1:p.Thr186IlefsTer?
XR_938511.1:n.1184del
XM_006724841.4:c.629del	XP_006724904.1:p.Thr210IlefsTer?
XM_006724842.4:c.539del	XP_006724905.1:p.Thr180IlefsTer?
XM_011531191.2:c.560del	XP_011529493.1:p.Thr187IlefsTer?
XM_017029761.1:c.821del	XP_016885250.1:p.Thr274IlefsTer?
XM_017029762.1:c.800del	XP_016885251.1:p.Thr267IlefsTer?
XM_017029763.1:c.623del	XP_016885252.1:p.Thr208IlefsTer?
XM_017029764.1:c.557del	XP_016885253.1:p.Thr186IlefsTer?
XM_017029765.2:c.497del	XP_016885254.1:p.Thr166IlefsTer?
XM_024452431.1:c.794del	XP_024308199.1:p.Thr265IlefsTer?
NM_000116.5:c.836del MANE Select	NP_000107.1:p.Thr279IlefsTer?
NM_001303465.2:c.848del	NP_001290394.1:p.Thr283IlefsTer?
NM_181311.4:c.746del	NP_851828.1:p.Thr249IlefsTer?
NM_181312.4:c.794del	NP_851829.1:p.Thr265IlefsTer?
NM_181313.4:c.704del	NP_851830.1:p.Thr235IlefsTer?
NR_024048.3:n.1157del