Canonical Allele Identifier: CA2466677846
Gene: TAFAZZIN HGNC NCBI

Linked Data

dbSNP Id: rs2068610434

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420824_154420850del , CM000685.2:g.154420824_154420850del GRCh38
NC_000023.10:g.153649163_153649189del , CM000685.1:g.153649163_153649189del GRCh37
NC_000023.9:g.153302357_153302383del NCBI36
NG_009634.1:g.14287_14313del
NG_009634.2:g.14290_14316del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1588-79_1588-53del
ENST00000698317.1:n.2204-79_2204-53del
ENST00000698318.1:n.1987-79_1987-53del
ENST00000698319.1:n.1350-79_1350-53del
ENST00000698320.1:n.1326_1352del
ENST00000470127.2:n.1251-79_1251-53del
ENST00000475699.6:c.742-79_742-53del ENSP00000419854.3:n.742-79_742-53del
ENST00000483674.3:n.660-79_660-53del
ENST00000601016.6:c.778-79_778-53del MANE Select ENSP00000469981.1:n.778-79_778-53del
ENST00000612012.5:c.736-79_736-53del ENSP00000482070.2:n.736-79_736-53del
ENST00000612460.5:c.688-79_688-53del ENSP00000481037.1:n.688-79_688-53del
ENST00000614595.2:n.2125-79_2125-53del
ENST00000615658.5:n.1367-79_1367-53del
ENST00000616020.5:c.790-79_790-53del ENSP00000483636.2:n.790-79_790-53del
ENST00000617701.5:c.*791-79_*791-53del ENSP00000481645.1:n.*791-79_*791-53del
ENST00000651139.1:c.-6-79_-6-53del ENSP00000498957.1:n.-6-79_-6-53del
ENST00000652354.1:c.460-79_460-53del ENSP00000498734.1:n.460-79_460-53del
ENST00000652358.1:c.571-79_571-53del ENSP00000498464.1:n.571-79_571-53del
ENST00000652390.1:c.697-79_697-53del ENSP00000498858.1:n.697-79_697-53del
ENST00000652476.1:n.1444-79_1444-53del
ENST00000652644.1:c.391-79_391-53del ENSP00000498496.1:n.391-79_391-53del
ENST00000652682.1:c.835-79_835-53del ENSP00000498288.1:n.835-79_835-53del
ENST00000652685.1:n.1131-79_1131-53del
ENST00000369776.8:c.688-79_688-53del ENSP00000358791.4:n.688-79_688-53del
ENST00000426231.5:c.775-79_775-53del
ENST00000475699.5:c.736-79_736-53del ENSP00000419854.2:n.736-79_736-53del
ENST00000494912.5:n.1467-79_1467-53del
ENST00000498029.1:n.236-79_236-53del
ENST00000601016.5:c.778-79_778-53del ENSP00000469981.1:n.778-79_778-53del
ENST00000612460.4:c.688-79_688-53del ENSP00000481037.1:n.688-79_688-53del
ENST00000613002.4:c.646-79_646-53del ENSP00000478154.1:n.646-79_646-53del
ENST00000615986.4:c.*506-79_*506-53del ENSP00000480133.1:n.*506-79_*506-53del
NM_000116.4:c.778-79_778-53del NP_000107.1:n.778-79_778-53del
NM_001303465.1:c.790-79_790-53del NP_001290394.1:n.790-79_790-53del
NM_181311.3:c.688-79_688-53del NP_851828.1:n.688-79_688-53del
NM_181312.3:c.736-79_736-53del NP_851829.1:n.736-79_736-53del
NM_181313.3:c.646-79_646-53del NP_851830.1:n.646-79_646-53del
NR_024048.2:n.1120-79_1120-53del
XM_006724836.1:c.832-79_832-53del XP_006724899.1:n.832-79_832-53del
XM_006724837.1:c.817-79_817-53del XP_006724900.1:n.817-79_817-53del
XM_006724839.1:c.700-79_700-53del XP_006724902.1:n.700-79_700-53del
XM_006724841.2:c.571-79_571-53del XP_006724904.1:n.571-79_571-53del
XM_006724842.2:c.481-79_481-53del XP_006724905.1:n.481-79_481-53del
XM_011531189.1:c.619-79_619-53del XP_011529491.1:n.619-79_619-53del
XM_011531190.1:c.571-79_571-53del XP_011529492.1:n.571-79_571-53del
XM_011531191.1:c.502-79_502-53del XP_011529493.1:n.502-79_502-53del
XM_011531192.1:c.499-79_499-53del XP_011529494.1:n.499-79_499-53del
XR_938511.1:n.1126-79_1126-53del
XM_006724841.4:c.571-79_571-53del XP_006724904.1:n.571-79_571-53del
XM_006724842.4:c.481-79_481-53del XP_006724905.1:n.481-79_481-53del
XM_011531191.2:c.502-79_502-53del XP_011529493.1:n.502-79_502-53del
XM_017029761.1:c.763-79_763-53del XP_016885250.1:n.763-79_763-53del
XM_017029762.1:c.742-79_742-53del XP_016885251.1:n.742-79_742-53del
XM_017029763.1:c.565-79_565-53del XP_016885252.1:n.565-79_565-53del
XM_017029764.1:c.499-79_499-53del XP_016885253.1:n.499-79_499-53del
XM_017029765.2:c.439-79_439-53del XP_016885254.1:n.439-79_439-53del
XM_024452431.1:c.736-79_736-53del XP_024308199.1:n.736-79_736-53del
NM_000116.5:c.778-79_778-53del MANE Select NP_000107.1:n.778-79_778-53del
NM_001303465.2:c.790-79_790-53del NP_001290394.1:n.790-79_790-53del
NM_181311.4:c.688-79_688-53del NP_851828.1:n.688-79_688-53del
NM_181312.4:c.736-79_736-53del NP_851829.1:n.736-79_736-53del
NM_181313.4:c.646-79_646-53del NP_851830.1:n.646-79_646-53del
NR_024048.3:n.1099-79_1099-53del