Canonical Allele Identifier: CA2466674884
Gene: TAFAZZIN HGNC NCBI
DNASE1L1 HGNC NCBI

Linked Data

dbSNP Id: rs2068325002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154412073_154412075del , CM000685.2:g.154412073_154412075del GRCh38
NC_000023.10:g.153640410_153640412del , CM000685.1:g.153640410_153640412del GRCh37
NC_000023.9:g.153293604_153293606del NCBI36
NG_009634.1:g.5534_5536del
NG_012884.2:g.5016_5018del
NG_009634.2:g.5539_5541del

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.525_527del (TAFAZZIN)
ENST00000698235.1:n.97-13_97-11del (TAFAZZIN)
ENST00000698317.1:n.59_61del (TAFAZZIN)
ENST00000475699.6:c.164-13_164-11del (TAFAZZIN) ENSP00000419854.3:n.164-13_164-11del
ENST00000476800.2:n.75-13_75-11del (TAFAZZIN)
ENST00000601016.6:c.110-13_110-11del (TAFAZZIN) MANE Select ENSP00000469981.1:n.110-13_110-11del
ENST00000612012.5:c.110-13_110-11del (TAFAZZIN) ENSP00000482070.2:n.110-13_110-11del
ENST00000612460.5:c.110-13_110-11del (TAFAZZIN) ENSP00000481037.1:n.110-13_110-11del
ENST00000614595.2:n.455_457del (TAFAZZIN)
ENST00000615658.5:n.423-13_423-11del (TAFAZZIN)
ENST00000616020.5:c.164-13_164-11del (TAFAZZIN) ENSP00000483636.2:n.164-13_164-11del
ENST00000617701.5:c.110-13_110-11del (TAFAZZIN) ENSP00000481645.1:n.110-13_110-11del
ENST00000621647.2:n.163-13_163-11del (TAFAZZIN)
ENST00000652358.1:c.-57+121_-57+123del (TAFAZZIN) ENSP00000498464.1:n.-57+121_-57+123del
ENST00000652390.1:c.29-13_29-11del (TAFAZZIN) ENSP00000498858.1:n.29-13_29-11del
ENST00000652476.1:n.271-13_271-11del (TAFAZZIN)
ENST00000652682.1:c.110-13_110-11del (TAFAZZIN) ENSP00000498288.1:n.110-13_110-11del
ENST00000652685.1:n.162-13_162-11del (TAFAZZIN)
ENST00000309585.9:c.-355_-353del (DNASE1L1) ENSP00000309168.5:n.-355_-353del
ENST00000369776.8:c.163+67_163+69del (TAFAZZIN) ENSP00000358791.4:n.163+67_163+69del
ENST00000369809.5:c.-613_-611del (DNASE1L1) ENSP00000358824.1:n.-613_-611del
ENST00000393638.5:c.-270_-268del (DNASE1L1) ENSP00000377255.1:n.-270_-268del
ENST00000424626.5:c.-613_-611del (DNASE1L1) ENSP00000393000.1:n.-613_-611del
ENST00000432135.1:c.-751_-749del (DNASE1L1) ENSP00000410281.1:n.-751_-749del
ENST00000439735.2:c.110-13_110-11del (TAFAZZIN) ENSP00000398193.1:n.110-13_110-11del
ENST00000451865.5:c.-270_-268del (DNASE1L1) ENSP00000393346.1:n.-270_-268del
ENST00000475699.5:c.110-13_110-11del (TAFAZZIN) ENSP00000419854.2:n.110-13_110-11del
ENST00000601016.5:c.110-13_110-11del (TAFAZZIN) ENSP00000469981.1:n.110-13_110-11del
ENST00000612012.4:c.164-13_164-11del (TAFAZZIN) ENSP00000482070.1:n.164-13_164-11del
ENST00000612460.4:c.110-13_110-11del (TAFAZZIN) ENSP00000481037.1:n.110-13_110-11del
ENST00000613002.4:c.110-13_110-11del (TAFAZZIN) ENSP00000478154.1:n.110-13_110-11del
ENST00000613634.4:n.430-13_430-11del (TAFAZZIN)
ENST00000614595.1:n.329-13_329-11del (TAFAZZIN)
ENST00000615658.4:n.436-13_436-11del (TAFAZZIN)
ENST00000615986.4:c.110-13_110-11del (TAFAZZIN) ENSP00000480133.1:n.110-13_110-11del
ENST00000616020.4:c.164-13_164-11del (TAFAZZIN) ENSP00000483636.1:n.164-13_164-11del
ENST00000617701.4:c.110-13_110-11del (TAFAZZIN) ENSP00000481645.1:n.110-13_110-11del
ENST00000620808.4:c.110-13_110-11del (TAFAZZIN) ENSP00000479311.1:n.110-13_110-11del
ENST00000621647.1:n.395-13_395-11del (TAFAZZIN)
NM_000116.4:c.110-13_110-11del (TAFAZZIN) NP_000107.1:n.110-13_110-11del
NM_001009932.2:c.-613_-611del (DNASE1L1) NP_001009932.1:n.-613_-611del
NM_001009933.2:c.-355_-353del (DNASE1L1) NP_001009933.1:n.-355_-353del
NM_001009934.2:c.-270_-268del (DNASE1L1) NP_001009934.1:n.-270_-268del
NM_001303465.1:c.164-13_164-11del (TAFAZZIN) NP_001290394.1:n.164-13_164-11del
NM_181311.3:c.110-13_110-11del (TAFAZZIN) NP_851828.1:n.110-13_110-11del
NM_181312.3:c.110-13_110-11del (TAFAZZIN) NP_851829.1:n.110-13_110-11del
NM_181313.3:c.110-13_110-11del (TAFAZZIN) NP_851830.1:n.110-13_110-11del
NR_024048.2:n.436-13_436-11del (TAFAZZIN)
XM_006724836.1:c.164-13_164-11del (TAFAZZIN) XP_006724899.1:n.164-13_164-11del
XM_006724837.1:c.164-13_164-11del (TAFAZZIN) XP_006724900.1:n.164-13_164-11del
XM_006724839.1:c.164-13_164-11del (TAFAZZIN) XP_006724902.1:n.164-13_164-11del
XM_006724841.2:c.-185-13_-185-11del (TAFAZZIN) XP_006724904.1:n.-185-13_-185-11del
XM_006724842.2:c.-185-13_-185-11del (TAFAZZIN) XP_006724905.1:n.-185-13_-185-11del
XM_011531189.1:c.164-13_164-11del (TAFAZZIN) XP_011529491.1:n.164-13_164-11del
XR_938511.1:n.467-13_467-11del (TAFAZZIN)
XM_005277829.4:c.-751_-749del (DNASE1L1) XP_005277886.1:n.-751_-749del
XM_006724841.4:c.-185-13_-185-11del (TAFAZZIN) XP_006724904.1:n.-185-13_-185-11del
XM_006724842.4:c.-185-13_-185-11del (TAFAZZIN) XP_006724905.1:n.-185-13_-185-11del
XM_017029332.1:c.-1809_-1807del (DNASE1L1) XP_016884821.1:n.-1809_-1807del
XM_017029761.1:c.110-13_110-11del (TAFAZZIN) XP_016885250.1:n.110-13_110-11del
XM_017029762.1:c.164-13_164-11del (TAFAZZIN) XP_016885251.1:n.164-13_164-11del
XM_017029763.1:c.110-13_110-11del (TAFAZZIN) XP_016885252.1:n.110-13_110-11del
XM_017029765.2:c.-185-13_-185-11del (TAFAZZIN) XP_016885254.1:n.-185-13_-185-11del
XM_024452431.1:c.164-13_164-11del (TAFAZZIN) XP_024308199.1:n.164-13_164-11del
NM_000116.5:c.110-13_110-11del (TAFAZZIN) MANE Select NP_000107.1:n.110-13_110-11del
NM_001009933.3:c.-355_-353del (DNASE1L1) NP_001009933.1:n.-355_-353del
NM_001303465.2:c.164-13_164-11del (TAFAZZIN) NP_001290394.1:n.164-13_164-11del
NM_181311.4:c.110-13_110-11del (TAFAZZIN) NP_851828.1:n.110-13_110-11del
NM_181312.4:c.110-13_110-11del (TAFAZZIN) NP_851829.1:n.110-13_110-11del
NM_181313.4:c.110-13_110-11del (TAFAZZIN) NP_851830.1:n.110-13_110-11del
NR_024048.3:n.415-13_415-11del (TAFAZZIN)
NM_001009932.3:c.-613_-611del (DNASE1L1) NP_001009932.1:n.-613_-611del
NM_001009934.3:c.-270_-268del (DNASE1L1) NP_001009934.1:n.-270_-268del
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