Canonical Allele Identifier: CA2530512476
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420647_154420648insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA , CM000685.2:g.154420647_154420648insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA GRCh38
NC_000023.10:g.153648986_153648987insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA , CM000685.1:g.153648986_153648987insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA GRCh37
NC_000023.9:g.153302180_153302181insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NCBI36
NG_009634.1:g.14110_14111insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
NG_009634.2:g.14113_14114insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1510-11_1510-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000698317.1:n.2126-11_2126-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000698318.1:n.1909-11_1909-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000698319.1:n.1272-11_1272-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000698320.1:n.1160-11_1160-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000470127.2:n.1173-11_1173-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000475699.6:c.664-11_664-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000419854.3:n.664-11_664-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000483674.3:n.582-11_582-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000601016.6:c.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA MANE Select ENSP00000469981.1:n.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000612012.5:c.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000482070.2:n.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000612460.5:c.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000481037.1:n.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000614595.2:n.2047-11_2047-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000615658.5:n.1289-11_1289-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000616020.5:c.712-11_712-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000483636.2:n.712-11_712-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000617701.5:c.*713-11_*713-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000481645.1:n.*713-11_*713-10insTGGATCCATTTGATAGGTCTTGC...
ENST00000651139.1:c.-84-11_-84-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000498957.1:n.-84-11_-84-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000652354.1:c.382-11_382-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000498734.1:n.382-11_382-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000652358.1:c.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000498464.1:n.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000652390.1:c.619-11_619-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000498858.1:n.619-11_619-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000652476.1:n.1366-11_1366-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000652644.1:c.313-11_313-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000498496.1:n.313-11_313-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000652682.1:c.757-11_757-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000498288.1:n.757-11_757-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000652685.1:n.1053-11_1053-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000369776.8:c.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000358791.4:n.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000426231.5:c.697-11_697-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000475699.5:c.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000419854.2:n.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000494912.5:n.1389-11_1389-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000498029.1:n.158-11_158-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
ENST00000601016.5:c.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000469981.1:n.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000612460.4:c.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000481037.1:n.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000613002.4:c.568-11_568-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000478154.1:n.568-11_568-10insTGGATCCATTTGATAGGTCTTGCGG...
ENST00000615986.4:c.*428-11_*428-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA ENSP00000480133.1:n.*428-11_*428-10insTGGATCCATTTGATAGGTCTTGC...
NM_000116.4:c.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_000107.1:n.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NM_001303465.1:c.712-11_712-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_001290394.1:n.712-11_712-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
NM_181311.3:c.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_851828.1:n.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NM_181312.3:c.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_851829.1:n.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NM_181313.3:c.568-11_568-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_851830.1:n.568-11_568-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NR_024048.2:n.1042-11_1042-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
XM_006724836.1:c.754-11_754-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724899.1:n.754-11_754-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_006724837.1:c.739-11_739-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724900.1:n.739-11_739-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_006724839.1:c.622-11_622-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724902.1:n.622-11_622-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_006724841.2:c.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724904.1:n.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_006724842.2:c.403-11_403-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724905.1:n.403-11_403-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_011531189.1:c.541-11_541-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_011529491.1:n.541-11_541-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_011531190.1:c.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_011529492.1:n.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_011531191.1:c.424-11_424-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_011529493.1:n.424-11_424-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_011531192.1:c.421-11_421-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_011529494.1:n.421-11_421-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XR_938511.1:n.1048-11_1048-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA
XM_006724841.4:c.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724904.1:n.493-11_493-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_006724842.4:c.403-11_403-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_006724905.1:n.403-11_403-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_011531191.2:c.424-11_424-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_011529493.1:n.424-11_424-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_017029761.1:c.685-11_685-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_016885250.1:n.685-11_685-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_017029762.1:c.664-11_664-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_016885251.1:n.664-11_664-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_017029763.1:c.487-11_487-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_016885252.1:n.487-11_487-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_017029764.1:c.421-11_421-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_016885253.1:n.421-11_421-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_017029765.2:c.361-11_361-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_016885254.1:n.361-11_361-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
XM_024452431.1:c.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA XP_024308199.1:n.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
NM_000116.5:c.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA MANE Select NP_000107.1:n.700-11_700-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NM_001303465.2:c.712-11_712-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_001290394.1:n.712-11_712-10insTGGATCCATTTGATAGGTCTTGCGGTCG...
NM_181311.4:c.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_851828.1:n.610-11_610-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NM_181312.4:c.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_851829.1:n.658-11_658-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NM_181313.4:c.568-11_568-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA NP_851830.1:n.568-11_568-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCA...
NR_024048.3:n.1021-11_1021-10insTGGATCCATTTGATAGGTCTTGCGGTCGCCAAAGGCCGGAGCACTCTCACCTGCATCTCGGAAAGGTCCATAAAAGCTAGAGGCAAACTTAATCGCATAGGA