Canonical Allele Identifier: CA2580612528

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506887
• ClinVar RCV Id: RCV003237256

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420661dup , CM000685.2:g.154420661dup	GRCh38
NC_000023.10:g.153649000dup , CM000685.1:g.153649000dup	GRCh37
NC_000023.9:g.153302194dup	NCBI36
NG_009634.1:g.14124dup
NG_009634.2:g.14127dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1513dup
ENST00000698317.1:n.2129dup
ENST00000698318.1:n.1912dup
ENST00000698319.1:n.1275dup
ENST00000698320.1:n.1163dup
ENST00000470127.2:n.1176dup
ENST00000475699.6:c.667dup	ENSP00000419854.3:p.Ile223AsnfsTer?
ENST00000483674.3:n.585dup
ENST00000601016.6:c.703dup MANE Select	ENSP00000469981.1:p.Ile235AsnfsTer?
ENST00000612012.5:c.661dup	ENSP00000482070.2:p.Ile221AsnfsTer?
ENST00000612460.5:c.613dup	ENSP00000481037.1:p.Ile205AsnfsTer?
ENST00000614595.2:n.2050dup
ENST00000615658.5:n.1292dup
ENST00000616020.5:c.715dup	ENSP00000483636.2:p.Ile239AsnfsTer?
ENST00000617701.5:c.*716dup	ENSP00000481645.1:n.*716dup
ENST00000651139.1:c.-81dup	ENSP00000498957.1:n.-81dup
ENST00000652354.1:c.385dup	ENSP00000498734.1:p.Ile129AsnfsTer?
ENST00000652358.1:c.496dup	ENSP00000498464.1:p.Ile166AsnfsTer?
ENST00000652390.1:c.622dup	ENSP00000498858.1:p.Ile208AsnfsTer?
ENST00000652476.1:n.1369dup
ENST00000652644.1:c.316dup	ENSP00000498496.1:p.Ile106AsnfsTer?
ENST00000652682.1:c.760dup	ENSP00000498288.1:p.Ile254AsnfsTer?
ENST00000652685.1:n.1056dup
ENST00000369776.8:c.613dup	ENSP00000358791.4:p.Ile205AsnfsTer?
ENST00000426231.5:c.700dup
ENST00000475699.5:c.661dup	ENSP00000419854.2:p.Ile221AsnfsTer?
ENST00000494912.5:n.1392dup
ENST00000498029.1:n.161dup
ENST00000601016.5:c.703dup	ENSP00000469981.1:p.Ile235AsnfsTer?
ENST00000612460.4:c.613dup	ENSP00000481037.1:p.Ile205AsnfsTer?
ENST00000613002.4:c.571dup	ENSP00000478154.1:p.Ile191AsnfsTer?
ENST00000615986.4:c.*431dup	ENSP00000480133.1:n.*431dup
NM_000116.4:c.703dup	NP_000107.1:p.Ile235AsnfsTer?
NM_001303465.1:c.715dup	NP_001290394.1:p.Ile239AsnfsTer?
NM_181311.3:c.613dup	NP_851828.1:p.Ile205AsnfsTer?
NM_181312.3:c.661dup	NP_851829.1:p.Ile221AsnfsTer?
NM_181313.3:c.571dup	NP_851830.1:p.Ile191AsnfsTer?
NR_024048.2:n.1045dup
XM_006724836.1:c.757dup	XP_006724899.1:p.Ile253AsnfsTer?
XM_006724837.1:c.742dup	XP_006724900.1:p.Ile248AsnfsTer?
XM_006724839.1:c.625dup	XP_006724902.1:p.Ile209AsnfsTer?
XM_006724841.2:c.496dup	XP_006724904.1:p.Ile166AsnfsTer?
XM_006724842.2:c.406dup	XP_006724905.1:p.Ile136AsnfsTer?
XM_011531189.1:c.544dup	XP_011529491.1:p.Ile182AsnfsTer?
XM_011531190.1:c.496dup	XP_011529492.1:p.Ile166AsnfsTer?
XM_011531191.1:c.427dup	XP_011529493.1:p.Ile143AsnfsTer?
XM_011531192.1:c.424dup	XP_011529494.1:p.Ile142AsnfsTer?
XR_938511.1:n.1051dup
XM_006724841.4:c.496dup	XP_006724904.1:p.Ile166AsnfsTer?
XM_006724842.4:c.406dup	XP_006724905.1:p.Ile136AsnfsTer?
XM_011531191.2:c.427dup	XP_011529493.1:p.Ile143AsnfsTer?
XM_017029761.1:c.688dup	XP_016885250.1:p.Ile230AsnfsTer?
XM_017029762.1:c.667dup	XP_016885251.1:p.Ile223AsnfsTer?
XM_017029763.1:c.490dup	XP_016885252.1:p.Ile164AsnfsTer?
XM_017029764.1:c.424dup	XP_016885253.1:p.Ile142AsnfsTer?
XM_017029765.2:c.364dup	XP_016885254.1:p.Ile122AsnfsTer?
XM_024452431.1:c.661dup	XP_024308199.1:p.Ile221AsnfsTer?
NM_000116.5:c.703dup MANE Select	NP_000107.1:p.Ile235AsnfsTer?
NM_001303465.2:c.715dup	NP_001290394.1:p.Ile239AsnfsTer?
NM_181311.4:c.613dup	NP_851828.1:p.Ile205AsnfsTer?
NM_181312.4:c.661dup	NP_851829.1:p.Ile221AsnfsTer?
NM_181313.4:c.571dup	NP_851830.1:p.Ile191AsnfsTer?
NR_024048.3:n.1024dup