Canonical Allele Identifier: CA915952186

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 661106
• ClinVar RCV Id: RCV000818455
• dbSNP Id: rs1603376938

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412216_154412223del , CM000685.2:g.154412216_154412223del	GRCh38
NC_000023.10:g.153640553_153640560del , CM000685.1:g.153640553_153640560del	GRCh37
NC_000023.9:g.153293747_153293754del	NCBI36
NG_009634.1:g.5677_5684del
NG_012884.2:g.4869_4876del
NG_009634.2:g.5682_5689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.666+2_666+9del
ENST00000698235.1:n.225+2_225+9del
ENST00000698317.1:n.202_209del
ENST00000698318.1:n.63_70del
ENST00000475699.6:c.292+2_292+9del
ENST00000476800.2:n.205_212del
ENST00000483674.3:n.129+2_129+9del
ENST00000601016.6:c.238+2_238+9del
ENST00000612012.5:c.238+2_238+9del
ENST00000612460.5:c.238+2_238+9del
ENST00000614595.2:n.598_605del
ENST00000615658.5:n.551+2_551+9del
ENST00000616020.5:c.292+2_292+9del
ENST00000617701.5:c.238+2_238+9del
ENST00000621647.2:n.291+2_291+9del
ENST00000652358.1:c.-57+264_-57+271del	ENSP00000498464.1:n.-57+264_-57+271del
ENST00000652390.1:c.157+2_157+9del
ENST00000652476.1:n.399+2_399+9del
ENST00000652682.1:c.238+2_238+9del
ENST00000652685.1:n.290+2_290+9del
ENST00000369776.8:c.163+210_163+217del	ENSP00000358791.4:n.163+210_163+217del
ENST00000426231.5:c.54+2_54+9del
ENST00000439735.2:c.238+2_238+9del
ENST00000475699.5:c.238+2_238+9del
ENST00000483780.5:n.12+2_12+9del
ENST00000601016.5:c.238+2_238+9del
ENST00000612012.4:c.292+2_292+9del
ENST00000612460.4:c.238+2_238+9del
ENST00000613002.4:c.238+2_238+9del
ENST00000613634.4:n.558+2_558+9del
ENST00000614595.1:n.459_466del
ENST00000615658.4:n.564+2_564+9del
ENST00000615986.4:c.238+2_238+9del
ENST00000616020.4:c.292+2_292+9del
ENST00000617701.4:c.238+2_238+9del
ENST00000620808.4:c.238+2_238+9del
ENST00000621647.1:n.523+2_523+9del
NM_000116.4:c.238+2_238+9del
NM_001303465.1:c.292+2_292+9del
NM_181311.3:c.238+2_238+9del
NM_181312.3:c.238+2_238+9del
NM_181313.3:c.238+2_238+9del
NR_024048.2:n.564+2_564+9del
XM_006724836.1:c.292+2_292+9del
XM_006724837.1:c.292+2_292+9del
XM_006724839.1:c.292+2_292+9del
XM_006724841.2:c.-57+2_-57+9del
XM_006724842.2:c.-57+2_-57+9del
XM_011531189.1:c.292+2_292+9del
XR_938511.1:n.595+2_595+9del
XM_006724841.4:c.-57+2_-57+9del
XM_006724842.4:c.-57+2_-57+9del
XM_017029761.1:c.238+2_238+9del
XM_017029762.1:c.292+2_292+9del
XM_017029763.1:c.238+2_238+9del
XM_017029765.2:c.-57+2_-57+9del
XM_024452431.1:c.292+2_292+9del
NM_000116.5:c.238+2_238+9del
NM_001303465.2:c.292+2_292+9del
NM_181311.4:c.238+2_238+9del
NM_181312.4:c.238+2_238+9del
NM_181313.4:c.238+2_238+9del
NR_024048.3:n.543+2_543+9del