Canonical Allele Identifier: CA2580101826

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2103474
• ClinVar RCV Id: RCV003022167

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419743_154419756del , CM000685.2:g.154419743_154419756del	GRCh38
NC_000023.10:g.153648082_153648095del , CM000685.1:g.153648082_153648095del	GRCh37
NC_000023.9:g.153301276_153301289del	NCBI36
NG_009634.1:g.13206_13219del
NG_009634.2:g.13209_13222del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1105_1118del
ENST00000698317.1:n.1721_1734del
ENST00000698318.1:n.1504_1517del
ENST00000698319.1:n.867_880del
ENST00000698320.1:n.755_768del
ENST00000470127.2:n.768_781del
ENST00000475699.6:c.544_547+10del
ENST00000483674.3:n.462_465+10del
ENST00000601016.6:c.580_583+10del
ENST00000612012.5:c.541+120_541+133del	ENSP00000482070.2:n.541+120_541+133del
ENST00000612460.5:c.490_493+10del
ENST00000614595.2:n.1927_1930+10del
ENST00000615658.5:n.884_897del
ENST00000616020.5:c.595+120_595+133del	ENSP00000483636.2:n.595+120_595+133del
ENST00000617701.5:c.*308_*321del	ENSP00000481645.1:n.*308_*321del
ENST00000652354.1:c.265+120_265+133del	ENSP00000498734.1:n.265+120_265+133del
ENST00000652358.1:c.373_376+10del
ENST00000652390.1:c.499_502+10del
ENST00000652476.1:n.961_974del
ENST00000652644.1:c.193_196+10del
ENST00000652682.1:c.637_640+10del
ENST00000652685.1:n.648_661del
ENST00000369776.8:c.376+120_376+133del	ENSP00000358791.4:n.376+120_376+133del
ENST00000426231.5:c.577_580+10del
ENST00000439735.2:c.487_490+10del
ENST00000470127.1:n.159_162+10del
ENST00000475699.5:c.541+120_541+133del	ENSP00000419854.2:n.541+120_541+133del
ENST00000476679.5:n.574_587del
ENST00000483780.5:n.345_358del
ENST00000494912.5:n.1269_1272+10del
ENST00000601016.5:c.580_583+10del
ENST00000612012.4:c.544_547+10del
ENST00000612460.4:c.490_493+10del
ENST00000613002.4:c.451+120_451+133del	ENSP00000478154.1:n.451+120_451+133del
ENST00000613634.4:n.810_823del
ENST00000615658.4:n.984_997del
ENST00000615986.4:c.*308_*311+10del
ENST00000620808.4:c.*170-289_*170-276del	ENSP00000479311.1:n.*170-289_*170-276del
NM_000116.4:c.580_583+10del
NM_001303465.1:c.595+120_595+133del	NP_001290394.1:n.595+120_595+133del
NM_181311.3:c.490_493+10del
NM_181312.3:c.541+120_541+133del	NP_851829.1:n.541+120_541+133del
NM_181313.3:c.451+120_451+133del	NP_851830.1:n.451+120_451+133del
NR_024048.2:n.922_925+10del
XM_006724836.1:c.634_637+10del
XM_006724837.1:c.505+120_505+133del	XP_006724900.1:n.505+120_505+133del
XM_006724839.1:c.505+120_505+133del	XP_006724902.1:n.505+120_505+133del
XM_006724841.2:c.373_376+10del
XM_006724842.2:c.283_286+10del
XM_011531189.1:c.425-289_425-276del	XP_011529491.1:n.425-289_425-276del
XM_011531190.1:c.373_376+10del
XM_011531191.1:c.304_307+10del
XM_011531192.1:c.301_304+10del
XR_938511.1:n.928_931+10del
XM_006724841.4:c.373_376+10del
XM_006724842.4:c.283_286+10del
XM_011531191.2:c.304_307+10del
XM_017029761.1:c.451+120_451+133del	XP_016885250.1:n.451+120_451+133del
XM_017029762.1:c.544_547+10del
XM_017029763.1:c.371-289_371-276del	XP_016885252.1:n.371-289_371-276del
XM_017029764.1:c.301_304+10del
XM_017029765.2:c.244+120_244+133del	XP_016885254.1:n.244+120_244+133del
XM_024452431.1:c.425-289_425-276del	XP_024308199.1:n.425-289_425-276del
NM_000116.5:c.580_583+10del
NM_001303465.2:c.595+120_595+133del	NP_001290394.1:n.595+120_595+133del
NM_181311.4:c.490_493+10del
NM_181312.4:c.541+120_541+133del	NP_851829.1:n.541+120_541+133del
NM_181313.4:c.451+120_451+133del	NP_851830.1:n.451+120_451+133del
NR_024048.3:n.901_904+10del