Canonical Allele Identifier: CA2695237041
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413253dup , CM000685.2:g.154413253dup GRCh38
NC_000023.10:g.153641590dup , CM000685.1:g.153641590dup GRCh37
NC_000023.9:g.153294784dup NCBI36
NG_009634.1:g.6714dup
NG_012884.2:g.3837dup
NG_009634.2:g.6719dup

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.713dup
ENST00000698235.1:n.272dup
ENST00000698317.1:n.1239dup
ENST00000698318.1:n.1100dup
ENST00000470127.2:n.334dup
ENST00000475699.6:c.338+1dup
ENST00000476800.2:n.1242dup
ENST00000483674.3:n.175+1dup
ENST00000601016.6:c.284+1dup
ENST00000612012.5:c.284+1dup
ENST00000612460.5:c.284+1dup
ENST00000614595.2:n.1635dup
ENST00000615658.5:n.597+1dup
ENST00000616020.5:c.338+1dup
ENST00000617701.5:c.285dup ENSP00000481645.1:p.Ter96ValextTer?
ENST00000621647.2:n.338dup
ENST00000652354.1:c.8+1dup
ENST00000652358.1:c.-10dup ENSP00000498464.1:n.-10dup
ENST00000652390.1:c.203+1dup
ENST00000652476.1:n.446dup
ENST00000652682.1:c.284+1dup
ENST00000652685.1:n.337dup
ENST00000369776.8:c.209+1dup
ENST00000426231.5:c.101dup
ENST00000439735.2:c.284+1dup
ENST00000475699.5:c.284+1dup
ENST00000476679.5:n.197+1dup
ENST00000476800.1:n.163dup
ENST00000479875.1:n.313+1dup
ENST00000483780.5:n.58+1dup
ENST00000601016.5:c.284+1dup
ENST00000612012.4:c.338+1dup
ENST00000612460.4:c.284+1dup
ENST00000613002.4:c.284+1dup
ENST00000613634.4:n.604+1dup
ENST00000615658.4:n.611dup
ENST00000615986.4:c.285dup ENSP00000480133.1:p.Ter96ValextTer?
ENST00000616020.4:c.338+1dup
ENST00000617701.4:c.285dup ENSP00000481645.1:p.Ter96ValextTer?
ENST00000620808.4:c.285dup ENSP00000479311.1:p.Ter96ValextTer?
ENST00000621647.1:n.570dup
NM_000116.4:c.284+1dup
NM_001303465.1:c.338+1dup
NM_181311.3:c.284+1dup
NM_181312.3:c.284+1dup
NM_181313.3:c.284+1dup
NR_024048.2:n.611dup
XM_006724836.1:c.338+1dup
XM_006724837.1:c.338+1dup
XM_006724839.1:c.338+1dup
XM_006724841.2:c.-10dup XP_006724904.1:n.-10dup
XM_006724842.2:c.-10dup XP_006724905.1:n.-10dup
XM_011531189.1:c.338+1dup
XM_011531190.1:c.-10dup XP_011529492.1:n.-10dup
XM_011531191.1:c.8+1dup
XM_011531192.1:c.-113dup XP_011529494.1:n.-113dup
XR_938511.1:n.641+1dup
XM_006724841.4:c.-10dup XP_006724904.1:n.-10dup
XM_006724842.4:c.-10dup XP_006724905.1:n.-10dup
XM_011531191.2:c.8+1dup
XM_017029761.1:c.284+1dup
XM_017029762.1:c.338+1dup
XM_017029763.1:c.284+1dup
XM_017029764.1:c.-113dup XP_016885253.1:n.-113dup
XM_017029765.2:c.-10dup XP_016885254.1:n.-10dup
XM_024452431.1:c.338+1dup
NM_000116.5:c.284+1dup
NM_001303465.2:c.338+1dup
NM_181311.4:c.284+1dup
NM_181312.4:c.284+1dup
NM_181313.4:c.284+1dup
NR_024048.3:n.590dup