Canonical Allele Identifier: CA2695120114
Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 2871971
ClinVar RCV Id: RCV003623569

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420106del , CM000685.2:g.154420106del GRCh38
NC_000023.10:g.153648445del , CM000685.1:g.153648445del GRCh37
NC_000023.9:g.153301639del NCBI36
NG_009634.1:g.13569del
NG_009634.2:g.13572del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1456+12del
ENST00000698317.1:n.2072+12del
ENST00000698318.1:n.1855+12del
ENST00000698319.1:n.1218+12del
ENST00000698320.1:n.1106+12del
ENST00000470127.2:n.1119+12del
ENST00000475699.6:c.610+12del ENSP00000419854.3:n.610+12del
ENST00000483674.3:n.528+12del
ENST00000601016.6:c.646+12del MANE Select ENSP00000469981.1:n.646+12del
ENST00000612012.5:c.604+12del ENSP00000482070.2:n.604+12del
ENST00000612460.5:c.556+12del ENSP00000481037.1:n.556+12del
ENST00000614595.2:n.1993+12del
ENST00000615658.5:n.1235+12del
ENST00000616020.5:c.658+12del ENSP00000483636.2:n.658+12del
ENST00000617701.5:c.*659+12del ENSP00000481645.1:n.*659+12del
ENST00000652354.1:c.328+12del ENSP00000498734.1:n.328+12del
ENST00000652358.1:c.439+12del ENSP00000498464.1:n.439+12del
ENST00000652390.1:c.565+12del ENSP00000498858.1:n.565+12del
ENST00000652476.1:n.1312+12del
ENST00000652644.1:c.259+12del ENSP00000498496.1:n.259+12del
ENST00000652682.1:c.703+12del ENSP00000498288.1:n.703+12del
ENST00000652685.1:n.999+12del
ENST00000369776.8:c.451del ENSP00000358791.4:p.Asp151ThrfsTer?
ENST00000426231.5:c.643+12del
ENST00000470127.1:n.237del
ENST00000475699.5:c.604+12del ENSP00000419854.2:n.604+12del
ENST00000494912.5:n.1335+12del
ENST00000498029.1:n.104+12del
ENST00000601016.5:c.646+12del ENSP00000469981.1:n.646+12del
ENST00000612460.4:c.556+12del ENSP00000481037.1:n.556+12del
ENST00000613002.4:c.514+12del ENSP00000478154.1:n.514+12del
ENST00000615986.4:c.*374+12del ENSP00000480133.1:n.*374+12del
NM_000116.4:c.646+12del NP_000107.1:n.646+12del
NM_001303465.1:c.658+12del NP_001290394.1:n.658+12del
NM_181311.3:c.556+12del NP_851828.1:n.556+12del
NM_181312.3:c.604+12del NP_851829.1:n.604+12del
NM_181313.3:c.514+12del NP_851830.1:n.514+12del
NR_024048.2:n.988+12del
XM_006724836.1:c.700+12del XP_006724899.1:n.700+12del
XM_006724837.1:c.580del XP_006724900.1:p.Asp194ThrfsTer?
XM_006724839.1:c.568+12del XP_006724902.1:n.568+12del
XM_006724841.2:c.439+12del XP_006724904.1:n.439+12del
XM_006724842.2:c.349+12del XP_006724905.1:n.349+12del
XM_011531189.1:c.487+12del XP_011529491.1:n.487+12del
XM_011531190.1:c.439+12del XP_011529492.1:n.439+12del
XM_011531191.1:c.370+12del XP_011529493.1:n.370+12del
XM_011531192.1:c.367+12del XP_011529494.1:n.367+12del
XR_938511.1:n.994+12del
XM_006724841.4:c.439+12del XP_006724904.1:n.439+12del
XM_006724842.4:c.349+12del XP_006724905.1:n.349+12del
XM_011531191.2:c.370+12del XP_011529493.1:n.370+12del
XM_017029761.1:c.526del XP_016885250.1:p.Asp176ThrfsTer?
XM_017029762.1:c.610+12del XP_016885251.1:n.610+12del
XM_017029763.1:c.433+12del XP_016885252.1:n.433+12del
XM_017029764.1:c.367+12del XP_016885253.1:n.367+12del
XM_017029765.2:c.307+12del XP_016885254.1:n.307+12del
XM_024452431.1:c.499del XP_024308199.1:p.Asp167ThrfsTer?
NM_000116.5:c.646+12del MANE Select NP_000107.1:n.646+12del
NM_001303465.2:c.658+12del NP_001290394.1:n.658+12del
NM_181311.4:c.556+12del NP_851828.1:n.556+12del
NM_181312.4:c.604+12del NP_851829.1:n.604+12del
NM_181313.4:c.514+12del NP_851830.1:n.514+12del
NR_024048.3:n.967+12del