Canonical Allele Identifier: CA2466677845
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420823_154420850delinsCACCCTCCCAGGGCACCCTCCCAGGGCA , CM000685.2:g.154420823_154420850delinsCACCCTCCCAGGGCACCCTCCCAGGGCA GRCh38
NC_000023.10:g.153649162_153649189delinsCACCCTCCCAGGGCACCCTCCCAGGGCA , CM000685.1:g.153649162_153649189delinsCACCCTCCCAGGGCACCCTCCCAGGGCA GRCh37
NC_000023.9:g.153302356_153302383delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NCBI36
NG_009634.1:g.14286_14313delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
NG_009634.2:g.14289_14316delinsCACCCTCCCAGGGCACCCTCCCAGGGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1588-80_1588-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000698317.1:n.2204-80_2204-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000698318.1:n.1987-80_1987-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000698319.1:n.1350-80_1350-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000698320.1:n.1325_1352delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000470127.2:n.1251-80_1251-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000475699.6:c.742-80_742-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000419854.3:n.742-80_742-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000483674.3:n.660-80_660-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000601016.6:c.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA MANE Select ENSP00000469981.1:n.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000612012.5:c.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000482070.2:n.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000612460.5:c.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000481037.1:n.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000614595.2:n.2125-80_2125-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000615658.5:n.1367-80_1367-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000616020.5:c.790-80_790-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000483636.2:n.790-80_790-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000617701.5:c.*791-80_*791-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000481645.1:n.*791-80_*791-53delinsCACCCTCCCAGGGCACCCTC...
ENST00000651139.1:c.-6-80_-6-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000498957.1:n.-6-80_-6-53delinsCACCCTCCCAGGGCACCCTCCCAG...
ENST00000652354.1:c.460-80_460-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000498734.1:n.460-80_460-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000652358.1:c.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000498464.1:n.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000652390.1:c.697-80_697-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000498858.1:n.697-80_697-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000652476.1:n.1444-80_1444-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000652644.1:c.391-80_391-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000498496.1:n.391-80_391-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000652682.1:c.835-80_835-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000498288.1:n.835-80_835-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000652685.1:n.1131-80_1131-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000369776.8:c.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000358791.4:n.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000426231.5:c.775-80_775-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000475699.5:c.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000419854.2:n.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000494912.5:n.1467-80_1467-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000498029.1:n.236-80_236-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
ENST00000601016.5:c.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000469981.1:n.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000612460.4:c.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000481037.1:n.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000613002.4:c.646-80_646-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000478154.1:n.646-80_646-53delinsCACCCTCCCAGGGCACCCTCCC...
ENST00000615986.4:c.*506-80_*506-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA ENSP00000480133.1:n.*506-80_*506-53delinsCACCCTCCCAGGGCACCCTC...
NM_000116.4:c.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_000107.1:n.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NM_001303465.1:c.790-80_790-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_001290394.1:n.790-80_790-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
NM_181311.3:c.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_851828.1:n.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NM_181312.3:c.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_851829.1:n.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NM_181313.3:c.646-80_646-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_851830.1:n.646-80_646-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NR_024048.2:n.1120-80_1120-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
XM_006724836.1:c.832-80_832-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724899.1:n.832-80_832-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_006724837.1:c.817-80_817-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724900.1:n.817-80_817-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_006724839.1:c.700-80_700-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724902.1:n.700-80_700-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_006724841.2:c.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724904.1:n.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_006724842.2:c.481-80_481-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724905.1:n.481-80_481-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_011531189.1:c.619-80_619-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_011529491.1:n.619-80_619-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_011531190.1:c.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_011529492.1:n.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_011531191.1:c.502-80_502-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_011529493.1:n.502-80_502-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_011531192.1:c.499-80_499-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_011529494.1:n.499-80_499-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XR_938511.1:n.1126-80_1126-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA
XM_006724841.4:c.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724904.1:n.571-80_571-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_006724842.4:c.481-80_481-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_006724905.1:n.481-80_481-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_011531191.2:c.502-80_502-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_011529493.1:n.502-80_502-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_017029761.1:c.763-80_763-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_016885250.1:n.763-80_763-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_017029762.1:c.742-80_742-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_016885251.1:n.742-80_742-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_017029763.1:c.565-80_565-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_016885252.1:n.565-80_565-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_017029764.1:c.499-80_499-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_016885253.1:n.499-80_499-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_017029765.2:c.439-80_439-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_016885254.1:n.439-80_439-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
XM_024452431.1:c.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA XP_024308199.1:n.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
NM_000116.5:c.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA MANE Select NP_000107.1:n.778-80_778-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NM_001303465.2:c.790-80_790-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_001290394.1:n.790-80_790-53delinsCACCCTCCCAGGGCACCCTCCCAGG...
NM_181311.4:c.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_851828.1:n.688-80_688-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NM_181312.4:c.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_851829.1:n.736-80_736-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NM_181313.4:c.646-80_646-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA NP_851830.1:n.646-80_646-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA...
NR_024048.3:n.1099-80_1099-53delinsCACCCTCCCAGGGCACCCTCCCAGGGCA