Canonical Allele Identifier: CA2466677574

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420050_154420054delinsCTGAG , CM000685.2:g.154420050_154420054delinsCTGAG	GRCh38
NC_000023.10:g.153648389_153648393delinsCTGAG , CM000685.1:g.153648389_153648393delinsCTGAG	GRCh37
NC_000023.9:g.153301583_153301587delinsCTGAG	NCBI36
NG_009634.1:g.13513_13517delinsCTGAG
NG_009634.2:g.13516_13520delinsCTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1412_1416delinsCTGAG
ENST00000698317.1:n.2028_2032delinsCTGAG
ENST00000698318.1:n.1811_1815delinsCTGAG
ENST00000698319.1:n.1174_1178delinsCTGAG
ENST00000698320.1:n.1062_1066delinsCTGAG
ENST00000470127.2:n.1075_1079delinsCTGAG
ENST00000475699.6:c.566_570delinsCTGAG	ENSP00000419854.3:p.Ala189=
ENST00000483674.3:n.484_488delinsCTGAG
ENST00000601016.6:c.602_606delinsCTGAG MANE Select	ENSP00000469981.1:p.Ala201=
ENST00000612012.5:c.560_564delinsCTGAG	ENSP00000482070.2:p.Ala187=
ENST00000612460.5:c.512_516delinsCTGAG	ENSP00000481037.1:p.Ala171=
ENST00000614595.2:n.1949_1953delinsCTGAG
ENST00000615658.5:n.1191_1195delinsCTGAG
ENST00000616020.5:c.614_618delinsCTGAG	ENSP00000483636.2:p.Ala205=
ENST00000617701.5:c.*615_*619delinsCTGAG	ENSP00000481645.1:n.*615_*619delinsCTGAG
ENST00000652354.1:c.284_288delinsCTGAG	ENSP00000498734.1:p.Ala95=
ENST00000652358.1:c.395_399delinsCTGAG	ENSP00000498464.1:p.Ala132=
ENST00000652390.1:c.521_525delinsCTGAG	ENSP00000498858.1:p.Ala174=
ENST00000652476.1:n.1268_1272delinsCTGAG
ENST00000652644.1:c.215_219delinsCTGAG	ENSP00000498496.1:p.Ala72=
ENST00000652682.1:c.659_663delinsCTGAG	ENSP00000498288.1:p.Ala220=
ENST00000652685.1:n.955_959delinsCTGAG
ENST00000369776.8:c.395_399delinsCTGAG	ENSP00000358791.4:p.Ala132=
ENST00000426231.5:c.599_603delinsCTGAG
ENST00000439735.2:c.509_513delinsCTGAG	ENSP00000398193.1:p.Ala170=
ENST00000470127.1:n.181_185delinsCTGAG
ENST00000475699.5:c.560_564delinsCTGAG	ENSP00000419854.2:p.Ala187=
ENST00000494912.5:n.1291_1295delinsCTGAG
ENST00000498029.1:n.60_64delinsCTGAG
ENST00000601016.5:c.602_606delinsCTGAG	ENSP00000469981.1:p.Ala201=
ENST00000612012.4:c.566_570delinsCTGAG	ENSP00000482070.1:p.Ala189=
ENST00000612460.4:c.512_516delinsCTGAG	ENSP00000481037.1:p.Ala171=
ENST00000613002.4:c.470_474delinsCTGAG	ENSP00000478154.1:p.Ala157=
ENST00000615658.4:n.1291_1295delinsCTGAG
ENST00000615986.4:c.*330_*334delinsCTGAG	ENSP00000480133.1:n.*330_*334delinsCTGAG
ENST00000620808.4:c.*188_*192delinsCTGAG	ENSP00000479311.1:n.*188_*192delinsCTGAG
NM_000116.4:c.602_606delinsCTGAG	NP_000107.1:p.Ala201=
NM_001303465.1:c.614_618delinsCTGAG	NP_001290394.1:p.Ala205=
NM_181311.3:c.512_516delinsCTGAG	NP_851828.1:p.Ala171=
NM_181312.3:c.560_564delinsCTGAG	NP_851829.1:p.Ala187=
NM_181313.3:c.470_474delinsCTGAG	NP_851830.1:p.Ala157=
NR_024048.2:n.944_948delinsCTGAG
XM_006724836.1:c.656_660delinsCTGAG	XP_006724899.1:p.Ala219=
XM_006724837.1:c.524_528delinsCTGAG	XP_006724900.1:p.Ala175=
XM_006724839.1:c.524_528delinsCTGAG	XP_006724902.1:p.Ala175=
XM_006724841.2:c.395_399delinsCTGAG	XP_006724904.1:p.Ala132=
XM_006724842.2:c.305_309delinsCTGAG	XP_006724905.1:p.Ala102=
XM_011531189.1:c.443_447delinsCTGAG	XP_011529491.1:p.Ala148=
XM_011531190.1:c.395_399delinsCTGAG	XP_011529492.1:p.Ala132=
XM_011531191.1:c.326_330delinsCTGAG	XP_011529493.1:p.Ala109=
XM_011531192.1:c.323_327delinsCTGAG	XP_011529494.1:p.Ala108=
XR_938511.1:n.950_954delinsCTGAG
XM_006724841.4:c.395_399delinsCTGAG	XP_006724904.1:p.Ala132=
XM_006724842.4:c.305_309delinsCTGAG	XP_006724905.1:p.Ala102=
XM_011531191.2:c.326_330delinsCTGAG	XP_011529493.1:p.Ala109=
XM_017029761.1:c.470_474delinsCTGAG	XP_016885250.1:p.Ala157=
XM_017029762.1:c.566_570delinsCTGAG	XP_016885251.1:p.Ala189=
XM_017029763.1:c.389_393delinsCTGAG	XP_016885252.1:p.Ala130=
XM_017029764.1:c.323_327delinsCTGAG	XP_016885253.1:p.Ala108=
XM_017029765.2:c.263_267delinsCTGAG	XP_016885254.1:p.Ala88=
XM_024452431.1:c.443_447delinsCTGAG	XP_024308199.1:p.Ala148=
NM_000116.5:c.602_606delinsCTGAG MANE Select	NP_000107.1:p.Ala201=
NM_001303465.2:c.614_618delinsCTGAG	NP_001290394.1:p.Ala205=
NM_181311.4:c.512_516delinsCTGAG	NP_851828.1:p.Ala171=
NM_181312.4:c.560_564delinsCTGAG	NP_851829.1:p.Ala187=
NM_181313.4:c.470_474delinsCTGAG	NP_851830.1:p.Ala157=
NR_024048.3:n.923_927delinsCTGAG