Canonical Allele Identifier: CA916084021

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 842542
• ClinVar RCV Id: RCV001044975
• dbSNP Id: rs2068331233

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412212_154412219del , CM000685.2:g.154412212_154412219del	GRCh38
NC_000023.10:g.153640549_153640556del , CM000685.1:g.153640549_153640556del	GRCh37
NC_000023.9:g.153293743_153293750del	NCBI36
NG_009634.1:g.5673_5680del
NG_012884.2:g.4870_4877del
NG_009634.2:g.5678_5685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.664_666+5del
ENST00000698235.1:n.223_225+5del
ENST00000698317.1:n.198_205del
ENST00000698318.1:n.59_66del
ENST00000475699.6:c.290_292+5del
ENST00000476800.2:n.201_208del
ENST00000483674.3:n.127_129+5del
ENST00000601016.6:c.236_238+5del
ENST00000612012.5:c.236_238+5del
ENST00000612460.5:c.236_238+5del
ENST00000614595.2:n.594_601del
ENST00000615658.5:n.549_551+5del
ENST00000616020.5:c.290_292+5del
ENST00000617701.5:c.236_238+5del
ENST00000621647.2:n.289_291+5del
ENST00000652358.1:c.-57+260_-57+267del	ENSP00000498464.1:n.-57+260_-57+267del
ENST00000652390.1:c.155_157+5del
ENST00000652476.1:n.397_399+5del
ENST00000652682.1:c.236_238+5del
ENST00000652685.1:n.288_290+5del
ENST00000369776.8:c.163+206_163+213del	ENSP00000358791.4:n.163+206_163+213del
ENST00000426231.5:c.52_54+5del
ENST00000439735.2:c.236_238+5del
ENST00000475699.5:c.236_238+5del
ENST00000483780.5:n.10_12+5del
ENST00000601016.5:c.236_238+5del
ENST00000612012.4:c.290_292+5del
ENST00000612460.4:c.236_238+5del
ENST00000613002.4:c.236_238+5del
ENST00000613634.4:n.556_558+5del
ENST00000614595.1:n.455_462del
ENST00000615658.4:n.562_564+5del
ENST00000615986.4:c.236_238+5del
ENST00000616020.4:c.290_292+5del
ENST00000617701.4:c.236_238+5del
ENST00000620808.4:c.236_238+5del
ENST00000621647.1:n.521_523+5del
NM_000116.4:c.236_238+5del
NM_001303465.1:c.290_292+5del
NM_181311.3:c.236_238+5del
NM_181312.3:c.236_238+5del
NM_181313.3:c.236_238+5del
NR_024048.2:n.562_564+5del
XM_006724836.1:c.290_292+5del
XM_006724837.1:c.290_292+5del
XM_006724839.1:c.290_292+5del
XM_006724841.2:c.-59_-57+5del
XM_006724842.2:c.-59_-57+5del
XM_011531189.1:c.290_292+5del
XR_938511.1:n.593_595+5del
XM_006724841.4:c.-59_-57+5del
XM_006724842.4:c.-59_-57+5del
XM_017029761.1:c.236_238+5del
XM_017029762.1:c.290_292+5del
XM_017029763.1:c.236_238+5del
XM_017029765.2:c.-59_-57+5del
XM_024452431.1:c.290_292+5del
NM_000116.5:c.236_238+5del
NM_001303465.2:c.290_292+5del
NM_181311.4:c.236_238+5del
NM_181312.4:c.236_238+5del
NM_181313.4:c.236_238+5del
NR_024048.3:n.541_543+5del