Canonical Allele Identifier: CA2580612523

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506905
• ClinVar RCV Id: RCV003237274

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413491delinsTTAAGGACCCCT , CM000685.2:g.154413491delinsTTAAGGACCCCT	GRCh38
NC_000023.10:g.153641828delinsTTAAGGACCCCT , CM000685.1:g.153641828delinsTTAAGGACCCCT	GRCh37
NC_000023.9:g.153295022delinsTTAAGGACCCCT	NCBI36
NG_009634.1:g.6952delinsTTAAGGACCCCT
NG_012884.2:g.3598delinsAGGGGTCCTTAA
NG_009634.2:g.6957delinsTTAAGGACCCCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.828delinsTTAAGGACCCCT
ENST00000698235.1:n.368delinsTTAAGGACCCCT
ENST00000698317.1:n.1354delinsTTAAGGACCCCT
ENST00000698318.1:n.1227delinsTTAAGGACCCCT
ENST00000470127.2:n.572delinsTTAAGGACCCCT
ENST00000475699.6:c.348delinsTTAAGGACCCCT	ENSP00000419854.3:p.Ala117Ter
ENST00000476800.2:n.1480delinsTTAAGGACCCCT
ENST00000483674.3:n.185delinsTTAAGGACCCCT
ENST00000601016.6:c.294delinsTTAAGGACCCCT MANE Select	ENSP00000469981.1:p.Ala99Ter
ENST00000612012.5:c.294delinsTTAAGGACCCCT	ENSP00000482070.2:p.Ala99Ter
ENST00000612460.5:c.294delinsTTAAGGACCCCT	ENSP00000481037.1:p.Ala99Ter
ENST00000614595.2:n.1731delinsTTAAGGACCCCT
ENST00000615658.5:n.607delinsTTAAGGACCCCT
ENST00000616020.5:c.348delinsTTAAGGACCCCT	ENSP00000483636.2:p.Ala117Ter
ENST00000617701.5:c.*112delinsTTAAGGACCCCT	ENSP00000481645.1:n.*112delinsTTAAGGACCCCT
ENST00000621647.2:n.576delinsTTAAGGACCCCT
ENST00000652354.1:c.18delinsTTAAGGACCCCT	ENSP00000498734.1:p.Ala7Ter
ENST00000652358.1:c.87delinsTTAAGGACCCCT	ENSP00000498464.1:p.Ala30Ter
ENST00000652390.1:c.213delinsTTAAGGACCCCT	ENSP00000498858.1:p.Ala72Ter
ENST00000652476.1:n.684delinsTTAAGGACCCCT
ENST00000652682.1:c.294delinsTTAAGGACCCCT	ENSP00000498288.1:p.Ala99Ter
ENST00000652685.1:n.452delinsTTAAGGACCCCT
ENST00000369776.8:c.219delinsTTAAGGACCCCT	ENSP00000358791.4:p.Ala74Ter
ENST00000426231.5:c.210delinsTTAAGGACCCCT
ENST00000439735.2:c.294delinsTTAAGGACCCCT	ENSP00000398193.1:p.Ala99Ter
ENST00000475699.5:c.294delinsTTAAGGACCCCT	ENSP00000419854.2:p.Ala99Ter
ENST00000476679.5:n.207delinsTTAAGGACCCCT
ENST00000476800.1:n.401delinsTTAAGGACCCCT
ENST00000479875.1:n.323delinsTTAAGGACCCCT
ENST00000483674.2:n.3delinsTTAAGGACCCCT
ENST00000483780.5:n.68delinsTTAAGGACCCCT
ENST00000601016.5:c.294delinsTTAAGGACCCCT	ENSP00000469981.1:p.Ala99Ter
ENST00000612012.4:c.348delinsTTAAGGACCCCT	ENSP00000482070.1:p.Ala117Ter
ENST00000612460.4:c.294delinsTTAAGGACCCCT	ENSP00000481037.1:p.Ala99Ter
ENST00000613002.4:c.294delinsTTAAGGACCCCT	ENSP00000478154.1:p.Ala99Ter
ENST00000613634.4:n.614delinsTTAAGGACCCCT
ENST00000615658.4:n.707delinsTTAAGGACCCCT
ENST00000615986.4:c.*112delinsTTAAGGACCCCT	ENSP00000480133.1:n.*112delinsTTAAGGACCCCT
ENST00000616020.4:c.348delinsTTAAGGACCCCT	ENSP00000483636.1:p.Ala117Ter
ENST00000617701.4:c.*124delinsTTAAGGACCCCT	ENSP00000481645.1:n.*124delinsTTAAGGACCCCT
ENST00000620808.4:c.*93delinsTTAAGGACCCCT	ENSP00000479311.1:n.*93delinsTTAAGGACCCCT
ENST00000621647.1:n.808delinsTTAAGGACCCCT
NM_000116.4:c.294delinsTTAAGGACCCCT	NP_000107.1:p.Ala99Ter
NM_001303465.1:c.348delinsTTAAGGACCCCT	NP_001290394.1:p.Ala117Ter
NM_181311.3:c.294delinsTTAAGGACCCCT	NP_851828.1:p.Ala99Ter
NM_181312.3:c.294delinsTTAAGGACCCCT	NP_851829.1:p.Ala99Ter
NM_181313.3:c.294delinsTTAAGGACCCCT	NP_851830.1:p.Ala99Ter
NR_024048.2:n.726delinsTTAAGGACCCCT
XM_006724836.1:c.348delinsTTAAGGACCCCT	XP_006724899.1:p.Ala117Ter
XM_006724837.1:c.348delinsTTAAGGACCCCT	XP_006724900.1:p.Ala117Ter
XM_006724839.1:c.348delinsTTAAGGACCCCT	XP_006724902.1:p.Ala117Ter
XM_006724841.2:c.87delinsTTAAGGACCCCT	XP_006724904.1:p.Ala30Ter
XM_006724842.2:c.87delinsTTAAGGACCCCT	XP_006724905.1:p.Ala30Ter
XM_011531189.1:c.348delinsTTAAGGACCCCT	XP_011529491.1:p.Ala117Ter
XM_011531190.1:c.87delinsTTAAGGACCCCT	XP_011529492.1:p.Ala30Ter
XM_011531191.1:c.18delinsTTAAGGACCCCT	XP_011529493.1:p.Ala7Ter
XM_011531192.1:c.15delinsTTAAGGACCCCT	XP_011529494.1:p.Ala6Ter
XR_938511.1:n.651delinsTTAAGGACCCCT
XM_006724841.4:c.87delinsTTAAGGACCCCT	XP_006724904.1:p.Ala30Ter
XM_006724842.4:c.87delinsTTAAGGACCCCT	XP_006724905.1:p.Ala30Ter
XM_011531191.2:c.18delinsTTAAGGACCCCT	XP_011529493.1:p.Ala7Ter
XM_017029761.1:c.294delinsTTAAGGACCCCT	XP_016885250.1:p.Ala99Ter
XM_017029762.1:c.348delinsTTAAGGACCCCT	XP_016885251.1:p.Ala117Ter
XM_017029763.1:c.294delinsTTAAGGACCCCT	XP_016885252.1:p.Ala99Ter
XM_017029764.1:c.15delinsTTAAGGACCCCT	XP_016885253.1:p.Ala6Ter
XM_017029765.2:c.87delinsTTAAGGACCCCT	XP_016885254.1:p.Ala30Ter
XM_024452431.1:c.348delinsTTAAGGACCCCT	XP_024308199.1:p.Ala117Ter
NM_000116.5:c.294delinsTTAAGGACCCCT MANE Select	NP_000107.1:p.Ala99Ter
NM_001303465.2:c.348delinsTTAAGGACCCCT	NP_001290394.1:p.Ala117Ter
NM_181311.4:c.294delinsTTAAGGACCCCT	NP_851828.1:p.Ala99Ter
NM_181312.4:c.294delinsTTAAGGACCCCT	NP_851829.1:p.Ala99Ter
NM_181313.4:c.294delinsTTAAGGACCCCT	NP_851830.1:p.Ala99Ter
NR_024048.3:n.705delinsTTAAGGACCCCT