Canonical Allele Identifier: CA658659063

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 462145
• ClinVar RCV Id: RCV000531914
• dbSNP Id: rs1557194381
• MyVariant Identifiers: chrX:g.153649051_153649060del (hg19) ; chrX:g.154420712_154420721del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420712_154420721del , CM000685.2:g.154420712_154420721del	GRCh38
NC_000023.10:g.153649051_153649060del , CM000685.1:g.153649051_153649060del	GRCh37
NC_000023.9:g.153302245_153302254del	NCBI36
NG_009634.1:g.14175_14184del
NG_009634.2:g.14178_14187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1564_1573del
ENST00000698317.1:n.2180_2189del
ENST00000698318.1:n.1963_1972del
ENST00000698319.1:n.1326_1335del
ENST00000698320.1:n.1214_1223del
ENST00000470127.2:n.1227_1236del
ENST00000475699.6:c.718_727del	ENSP00000419854.3:p.Leu240ArgfsTer12
ENST00000483674.3:n.636_645del
ENST00000601016.6:c.754_763del MANE Select	ENSP00000469981.1:p.Leu252ArgfsTer12
ENST00000612012.5:c.712_721del	ENSP00000482070.2:p.Leu238ArgfsTer12
ENST00000612460.5:c.664_673del	ENSP00000481037.1:p.Leu222ArgfsTer12
ENST00000614595.2:n.2101_2110del
ENST00000615658.5:n.1343_1352del
ENST00000616020.5:c.766_775del	ENSP00000483636.2:p.Leu256ArgfsTer12
ENST00000617701.5:c.*767_*776del	ENSP00000481645.1:n.*767_*776del
ENST00000651139.1:c.-30_-21del	ENSP00000498957.1:n.-30_-21del
ENST00000652354.1:c.436_445del	ENSP00000498734.1:p.Leu146ArgfsTer12
ENST00000652358.1:c.547_556del	ENSP00000498464.1:p.Leu183ArgfsTer12
ENST00000652390.1:c.673_682del	ENSP00000498858.1:p.Leu225ArgfsTer12
ENST00000652476.1:n.1420_1429del
ENST00000652644.1:c.367_376del	ENSP00000498496.1:p.Leu123ArgfsTer12
ENST00000652682.1:c.811_820del	ENSP00000498288.1:p.Leu271ArgfsTer12
ENST00000652685.1:n.1107_1116del
ENST00000369776.8:c.664_673del	ENSP00000358791.4:p.Leu222ArgfsTer12
ENST00000426231.5:c.751_760del
ENST00000475699.5:c.712_721del	ENSP00000419854.2:p.Leu238ArgfsTer12
ENST00000494912.5:n.1443_1452del
ENST00000498029.1:n.212_221del
ENST00000601016.5:c.754_763del	ENSP00000469981.1:p.Leu252ArgfsTer12
ENST00000612460.4:c.664_673del	ENSP00000481037.1:p.Leu222ArgfsTer12
ENST00000613002.4:c.622_631del	ENSP00000478154.1:p.Leu208ArgfsTer12
ENST00000615986.4:c.*482_*491del	ENSP00000480133.1:n.*482_*491del
NM_000116.4:c.754_763del	NP_000107.1:p.Leu252ArgfsTer12
NM_001303465.1:c.766_775del	NP_001290394.1:p.Leu256ArgfsTer12
NM_181311.3:c.664_673del	NP_851828.1:p.Leu222ArgfsTer12
NM_181312.3:c.712_721del	NP_851829.1:p.Leu238ArgfsTer12
NM_181313.3:c.622_631del	NP_851830.1:p.Leu208ArgfsTer12
NR_024048.2:n.1096_1105del
XM_006724836.1:c.808_817del	XP_006724899.1:p.Leu270ArgfsTer12
XM_006724837.1:c.793_802del	XP_006724900.1:p.Leu265ArgfsTer12
XM_006724839.1:c.676_685del	XP_006724902.1:p.Leu226ArgfsTer12
XM_006724841.2:c.547_556del	XP_006724904.1:p.Leu183ArgfsTer12
XM_006724842.2:c.457_466del	XP_006724905.1:p.Leu153ArgfsTer12
XM_011531189.1:c.595_604del	XP_011529491.1:p.Leu199ArgfsTer12
XM_011531190.1:c.547_556del	XP_011529492.1:p.Leu183ArgfsTer12
XM_011531191.1:c.478_487del	XP_011529493.1:p.Leu160ArgfsTer12
XM_011531192.1:c.475_484del	XP_011529494.1:p.Leu159ArgfsTer12
XR_938511.1:n.1102_1111del
XM_006724841.4:c.547_556del	XP_006724904.1:p.Leu183ArgfsTer12
XM_006724842.4:c.457_466del	XP_006724905.1:p.Leu153ArgfsTer12
XM_011531191.2:c.478_487del	XP_011529493.1:p.Leu160ArgfsTer12
XM_017029761.1:c.739_748del	XP_016885250.1:p.Leu247ArgfsTer12
XM_017029762.1:c.718_727del	XP_016885251.1:p.Leu240ArgfsTer12
XM_017029763.1:c.541_550del	XP_016885252.1:p.Leu181ArgfsTer12
XM_017029764.1:c.475_484del	XP_016885253.1:p.Leu159ArgfsTer12
XM_017029765.2:c.415_424del	XP_016885254.1:p.Leu139ArgfsTer12
XM_024452431.1:c.712_721del	XP_024308199.1:p.Leu238ArgfsTer12
NM_000116.5:c.754_763del MANE Select	NP_000107.1:p.Leu252ArgfsTer12
NM_001303465.2:c.766_775del	NP_001290394.1:p.Leu256ArgfsTer12
NM_181311.4:c.664_673del	NP_851828.1:p.Leu222ArgfsTer12
NM_181312.4:c.712_721del	NP_851829.1:p.Leu238ArgfsTer12
NM_181313.4:c.622_631del	NP_851830.1:p.Leu208ArgfsTer12
NR_024048.3:n.1075_1084del