Canonical Allele Identifier: CA2466675370

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2202614
• ClinVar RCV Id: RCV002648083
• dbSNP Id: rs2068389988

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413579del , CM000685.2:g.154413579del	GRCh38
NC_000023.10:g.153641916del , CM000685.1:g.153641916del	GRCh37
NC_000023.9:g.153295110del	NCBI36
NG_009634.1:g.7040del
NG_012884.2:g.3511del
NG_009634.2:g.7045del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.904+12del
ENST00000698235.1:n.456del
ENST00000698317.1:n.1430+12del
ENST00000698318.1:n.1303+12del
ENST00000470127.2:n.648+12del
ENST00000475699.6:c.424+12del	ENSP00000419854.3:n.424+12del
ENST00000476800.2:n.1556+12del
ENST00000483674.3:n.261+12del
ENST00000601016.6:c.370+12del MANE Select	ENSP00000469981.1:n.370+12del
ENST00000612012.5:c.370+12del	ENSP00000482070.2:n.370+12del
ENST00000612460.5:c.370+12del	ENSP00000481037.1:n.370+12del
ENST00000614595.2:n.1807+12del
ENST00000615658.5:n.683+12del
ENST00000616020.5:c.424+12del	ENSP00000483636.2:n.424+12del
ENST00000617701.5:c.*188+12del	ENSP00000481645.1:n.*188+12del
ENST00000621647.2:n.664del
ENST00000652354.1:c.94+12del	ENSP00000498734.1:n.94+12del
ENST00000652358.1:c.163+12del	ENSP00000498464.1:n.163+12del
ENST00000652390.1:c.289+12del	ENSP00000498858.1:n.289+12del
ENST00000652476.1:n.760+12del
ENST00000652644.1:c.16+12del	ENSP00000498496.1:n.16+12del
ENST00000652682.1:c.370+12del	ENSP00000498288.1:n.370+12del
ENST00000652685.1:n.528+12del
ENST00000369776.8:c.295+12del	ENSP00000358791.4:n.295+12del
ENST00000426231.5:c.286+12del
ENST00000439735.2:c.370+12del	ENSP00000398193.1:n.370+12del
ENST00000470127.1:n.39+12del
ENST00000475699.5:c.370+12del	ENSP00000419854.2:n.370+12del
ENST00000476679.5:n.283+12del
ENST00000476800.1:n.477+12del
ENST00000483674.2:n.79+12del
ENST00000483780.5:n.144+12del
ENST00000601016.5:c.370+12del	ENSP00000469981.1:n.370+12del
ENST00000612012.4:c.424+12del	ENSP00000482070.1:n.424+12del
ENST00000612460.4:c.370+12del	ENSP00000481037.1:n.370+12del
ENST00000613002.4:c.370+12del	ENSP00000478154.1:n.370+12del
ENST00000613634.4:n.690+12del
ENST00000615658.4:n.783+12del
ENST00000615986.4:c.*188+12del	ENSP00000480133.1:n.*188+12del
ENST00000616020.4:c.424+12del	ENSP00000483636.1:n.424+12del
ENST00000620808.4:c.*169+12del	ENSP00000479311.1:n.*169+12del
ENST00000621647.1:n.896del
NM_000116.4:c.370+12del	NP_000107.1:n.370+12del
NM_001303465.1:c.424+12del	NP_001290394.1:n.424+12del
NM_181311.3:c.370+12del	NP_851828.1:n.370+12del
NM_181312.3:c.370+12del	NP_851829.1:n.370+12del
NM_181313.3:c.370+12del	NP_851830.1:n.370+12del
NR_024048.2:n.802+12del
XM_006724836.1:c.424+12del	XP_006724899.1:n.424+12del
XM_006724837.1:c.424+12del	XP_006724900.1:n.424+12del
XM_006724839.1:c.424+12del	XP_006724902.1:n.424+12del
XM_006724841.2:c.163+12del	XP_006724904.1:n.163+12del
XM_006724842.2:c.163+12del	XP_006724905.1:n.163+12del
XM_011531189.1:c.424+12del	XP_011529491.1:n.424+12del
XM_011531190.1:c.163+12del	XP_011529492.1:n.163+12del
XM_011531191.1:c.94+12del	XP_011529493.1:n.94+12del
XM_011531192.1:c.91+12del	XP_011529494.1:n.91+12del
XR_938511.1:n.727+12del
XM_006724841.4:c.163+12del	XP_006724904.1:n.163+12del
XM_006724842.4:c.163+12del	XP_006724905.1:n.163+12del
XM_011531191.2:c.94+12del	XP_011529493.1:n.94+12del
XM_017029761.1:c.370+12del	XP_016885250.1:n.370+12del
XM_017029762.1:c.424+12del	XP_016885251.1:n.424+12del
XM_017029763.1:c.370+12del	XP_016885252.1:n.370+12del
XM_017029764.1:c.91+12del	XP_016885253.1:n.91+12del
XM_017029765.2:c.163+12del	XP_016885254.1:n.163+12del
XM_024452431.1:c.424+12del	XP_024308199.1:n.424+12del
NM_000116.5:c.370+12del MANE Select	NP_000107.1:n.370+12del
NM_001303465.2:c.424+12del	NP_001290394.1:n.424+12del
NM_181311.4:c.370+12del	NP_851828.1:n.370+12del
NM_181312.4:c.370+12del	NP_851829.1:n.370+12del
NM_181313.4:c.370+12del	NP_851830.1:n.370+12del
NR_024048.3:n.781+12del