Canonical Allele Identifier: CA2842690230
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413393dup , CM000685.2:g.154413393dup GRCh38
NC_000023.10:g.153641730dup , CM000685.1:g.153641730dup GRCh37
NC_000023.9:g.153294924dup NCBI36
NG_009634.1:g.6854dup
NG_012884.2:g.3699dup
NG_009634.2:g.6859dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.818+35dup
ENST00000698235.1:n.358+54dup
ENST00000698317.1:n.1344+35dup
ENST00000698318.1:n.1217+23dup
ENST00000470127.2:n.474dup
ENST00000475699.6:c.339-89dup ENSP00000419854.3:n.339-89dup
ENST00000476800.2:n.1382dup
ENST00000483674.3:n.176-89dup
ENST00000601016.6:c.285-89dup MANE Select ENSP00000469981.1:n.285-89dup
ENST00000612012.5:c.285-89dup ENSP00000482070.2:n.285-89dup
ENST00000612460.5:c.285-89dup ENSP00000481037.1:n.285-89dup
ENST00000614595.2:n.1721+54dup
ENST00000615658.5:n.598-89dup
ENST00000616020.5:c.339-89dup ENSP00000483636.2:n.339-89dup
ENST00000617701.5:c.*102+35dup ENSP00000481645.1:n.*102+35dup
ENST00000621647.2:n.478dup
ENST00000652354.1:c.9-89dup ENSP00000498734.1:n.9-89dup
ENST00000652358.1:c.77+54dup ENSP00000498464.1:n.77+54dup
ENST00000652390.1:c.204-89dup ENSP00000498858.1:n.204-89dup
ENST00000652476.1:n.586dup
ENST00000652682.1:c.285-89dup ENSP00000498288.1:n.285-89dup
ENST00000652685.1:n.442+35dup
ENST00000369776.8:c.210-89dup ENSP00000358791.4:n.210-89dup
ENST00000426231.5:c.200+41dup
ENST00000439735.2:c.285-89dup ENSP00000398193.1:n.285-89dup
ENST00000475699.5:c.285-89dup ENSP00000419854.2:n.285-89dup
ENST00000476679.5:n.198-89dup
ENST00000476800.1:n.303dup
ENST00000479875.1:n.314-89dup
ENST00000483780.5:n.59-89dup
ENST00000601016.5:c.285-89dup ENSP00000469981.1:n.285-89dup
ENST00000612012.4:c.339-89dup ENSP00000482070.1:n.339-89dup
ENST00000612460.4:c.285-89dup ENSP00000481037.1:n.285-89dup
ENST00000613002.4:c.285-89dup ENSP00000478154.1:n.285-89dup
ENST00000613634.4:n.605-89dup
ENST00000615658.4:n.697+54dup
ENST00000615986.4:c.*102+35dup ENSP00000480133.1:n.*102+35dup
ENST00000616020.4:c.339-89dup ENSP00000483636.1:n.339-89dup
ENST00000617701.4:c.*114+23dup ENSP00000481645.1:n.*114+23dup
ENST00000620808.4:c.*83+54dup ENSP00000479311.1:n.*83+54dup
ENST00000621647.1:n.710dup
NM_000116.4:c.285-89dup NP_000107.1:n.285-89dup
NM_001303465.1:c.339-89dup NP_001290394.1:n.339-89dup
NM_181311.3:c.285-89dup NP_851828.1:n.285-89dup
NM_181312.3:c.285-89dup NP_851829.1:n.285-89dup
NM_181313.3:c.285-89dup NP_851830.1:n.285-89dup
NR_024048.2:n.716+35dup
XM_006724836.1:c.339-89dup XP_006724899.1:n.339-89dup
XM_006724837.1:c.339-89dup XP_006724900.1:n.339-89dup
XM_006724839.1:c.339-89dup XP_006724902.1:n.339-89dup
XM_006724841.2:c.77+54dup XP_006724904.1:n.77+54dup
XM_006724842.2:c.77+54dup XP_006724905.1:n.77+54dup
XM_011531189.1:c.339-89dup XP_011529491.1:n.339-89dup
XM_011531190.1:c.77+54dup XP_011529492.1:n.77+54dup
XM_011531191.1:c.9-89dup XP_011529493.1:n.9-89dup
XM_011531192.1:c.5+23dup XP_011529494.1:n.5+23dup
XR_938511.1:n.642-89dup
XM_006724841.4:c.77+54dup XP_006724904.1:n.77+54dup
XM_006724842.4:c.77+54dup XP_006724905.1:n.77+54dup
XM_011531191.2:c.9-89dup XP_011529493.1:n.9-89dup
XM_017029761.1:c.285-89dup XP_016885250.1:n.285-89dup
XM_017029762.1:c.339-89dup XP_016885251.1:n.339-89dup
XM_017029763.1:c.285-89dup XP_016885252.1:n.285-89dup
XM_017029764.1:c.5+23dup XP_016885253.1:n.5+23dup
XM_017029765.2:c.77+54dup XP_016885254.1:n.77+54dup
XM_024452431.1:c.339-89dup XP_024308199.1:n.339-89dup
NM_000116.5:c.285-89dup MANE Select NP_000107.1:n.285-89dup
NM_001303465.2:c.339-89dup NP_001290394.1:n.339-89dup
NM_181311.4:c.285-89dup NP_851828.1:n.285-89dup
NM_181312.4:c.285-89dup NP_851829.1:n.285-89dup
NM_181313.4:c.285-89dup NP_851830.1:n.285-89dup
NR_024048.3:n.695+35dup