Canonical Allele Identifier: CA2466677707
Gene: TAFAZZIN HGNC NCBI

Linked Data

dbSNP Id: rs2068597597

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420470_154420474dup , CM000685.2:g.154420470_154420474dup GRCh38
NC_000023.10:g.153648809_153648813dup , CM000685.1:g.153648809_153648813dup GRCh37
NC_000023.9:g.153302003_153302007dup NCBI36
NG_009634.1:g.13933_13937dup
NG_009634.2:g.13936_13940dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1510-188_1510-184dup
ENST00000698317.1:n.2126-188_2126-184dup
ENST00000698318.1:n.1909-188_1909-184dup
ENST00000698319.1:n.1272-188_1272-184dup
ENST00000698320.1:n.1160-188_1160-184dup
ENST00000470127.2:n.1173-188_1173-184dup
ENST00000475699.6:c.664-188_664-184dup ENSP00000419854.3:n.664-188_664-184dup
ENST00000483674.3:n.582-188_582-184dup
ENST00000601016.6:c.700-188_700-184dup MANE Select ENSP00000469981.1:n.700-188_700-184dup
ENST00000612012.5:c.658-188_658-184dup ENSP00000482070.2:n.658-188_658-184dup
ENST00000612460.5:c.610-188_610-184dup ENSP00000481037.1:n.610-188_610-184dup
ENST00000614595.2:n.2047-188_2047-184dup
ENST00000615658.5:n.1289-188_1289-184dup
ENST00000616020.5:c.712-188_712-184dup ENSP00000483636.2:n.712-188_712-184dup
ENST00000617701.5:c.*713-188_*713-184dup ENSP00000481645.1:n.*713-188_*713-184dup
ENST00000651139.1:c.-85+11_-85+15dup ENSP00000498957.1:n.-85+11_-85+15dup
ENST00000652354.1:c.382-188_382-184dup ENSP00000498734.1:n.382-188_382-184dup
ENST00000652358.1:c.493-188_493-184dup ENSP00000498464.1:n.493-188_493-184dup
ENST00000652390.1:c.619-188_619-184dup ENSP00000498858.1:n.619-188_619-184dup
ENST00000652476.1:n.1366-188_1366-184dup
ENST00000652644.1:c.313-188_313-184dup ENSP00000498496.1:n.313-188_313-184dup
ENST00000652682.1:c.757-188_757-184dup ENSP00000498288.1:n.757-188_757-184dup
ENST00000652685.1:n.1053-188_1053-184dup
ENST00000369776.8:c.610-188_610-184dup ENSP00000358791.4:n.610-188_610-184dup
ENST00000426231.5:c.697-188_697-184dup
ENST00000475699.5:c.658-188_658-184dup ENSP00000419854.2:n.658-188_658-184dup
ENST00000494912.5:n.1389-188_1389-184dup
ENST00000498029.1:n.158-188_158-184dup
ENST00000601016.5:c.700-188_700-184dup ENSP00000469981.1:n.700-188_700-184dup
ENST00000612460.4:c.610-188_610-184dup ENSP00000481037.1:n.610-188_610-184dup
ENST00000613002.4:c.568-188_568-184dup ENSP00000478154.1:n.568-188_568-184dup
ENST00000615986.4:c.*428-188_*428-184dup ENSP00000480133.1:n.*428-188_*428-184dup
NM_000116.4:c.700-188_700-184dup NP_000107.1:n.700-188_700-184dup
NM_001303465.1:c.712-188_712-184dup NP_001290394.1:n.712-188_712-184dup
NM_181311.3:c.610-188_610-184dup NP_851828.1:n.610-188_610-184dup
NM_181312.3:c.658-188_658-184dup NP_851829.1:n.658-188_658-184dup
NM_181313.3:c.568-188_568-184dup NP_851830.1:n.568-188_568-184dup
NR_024048.2:n.1042-188_1042-184dup
XM_006724836.1:c.754-188_754-184dup XP_006724899.1:n.754-188_754-184dup
XM_006724837.1:c.739-188_739-184dup XP_006724900.1:n.739-188_739-184dup
XM_006724839.1:c.622-188_622-184dup XP_006724902.1:n.622-188_622-184dup
XM_006724841.2:c.493-188_493-184dup XP_006724904.1:n.493-188_493-184dup
XM_006724842.2:c.403-188_403-184dup XP_006724905.1:n.403-188_403-184dup
XM_011531189.1:c.541-188_541-184dup XP_011529491.1:n.541-188_541-184dup
XM_011531190.1:c.493-188_493-184dup XP_011529492.1:n.493-188_493-184dup
XM_011531191.1:c.424-188_424-184dup XP_011529493.1:n.424-188_424-184dup
XM_011531192.1:c.421-188_421-184dup XP_011529494.1:n.421-188_421-184dup
XR_938511.1:n.1048-188_1048-184dup
XM_006724841.4:c.493-188_493-184dup XP_006724904.1:n.493-188_493-184dup
XM_006724842.4:c.403-188_403-184dup XP_006724905.1:n.403-188_403-184dup
XM_011531191.2:c.424-188_424-184dup XP_011529493.1:n.424-188_424-184dup
XM_017029761.1:c.685-188_685-184dup XP_016885250.1:n.685-188_685-184dup
XM_017029762.1:c.664-188_664-184dup XP_016885251.1:n.664-188_664-184dup
XM_017029763.1:c.487-188_487-184dup XP_016885252.1:n.487-188_487-184dup
XM_017029764.1:c.421-188_421-184dup XP_016885253.1:n.421-188_421-184dup
XM_017029765.2:c.361-188_361-184dup XP_016885254.1:n.361-188_361-184dup
XM_024452431.1:c.658-188_658-184dup XP_024308199.1:n.658-188_658-184dup
NM_000116.5:c.700-188_700-184dup MANE Select NP_000107.1:n.700-188_700-184dup
NM_001303465.2:c.712-188_712-184dup NP_001290394.1:n.712-188_712-184dup
NM_181311.4:c.610-188_610-184dup NP_851828.1:n.610-188_610-184dup
NM_181312.4:c.658-188_658-184dup NP_851829.1:n.658-188_658-184dup
NM_181313.4:c.568-188_568-184dup NP_851830.1:n.568-188_568-184dup
NR_024048.3:n.1021-188_1021-184dup