Canonical Allele Identifier: CA2466677817

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420763_154420764delinsCT , CM000685.2:g.154420763_154420764delinsCT	GRCh38
NC_000023.10:g.153649102_153649103delinsCT , CM000685.1:g.153649102_153649103delinsCT	GRCh37
NC_000023.9:g.153302296_153302297delinsCT	NCBI36
NG_009634.1:g.14226_14227delinsCT
NG_009634.2:g.14229_14230delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1587+28_1587+29delinsCT
ENST00000698317.1:n.2203+28_2203+29delinsCT
ENST00000698318.1:n.1986+28_1986+29delinsCT
ENST00000698319.1:n.1349+28_1349+29delinsCT
ENST00000698320.1:n.1265_1266delinsCT
ENST00000470127.2:n.1250+28_1250+29delinsCT
ENST00000475699.6:c.741+28_741+29delinsCT	ENSP00000419854.3:n.741+28_741+29delinsCT
ENST00000483674.3:n.659+28_659+29delinsCT
ENST00000601016.6:c.777+28_777+29delinsCT MANE Select	ENSP00000469981.1:n.777+28_777+29delinsCT
ENST00000612012.5:c.735+28_735+29delinsCT	ENSP00000482070.2:n.735+28_735+29delinsCT
ENST00000612460.5:c.687+28_687+29delinsCT	ENSP00000481037.1:n.687+28_687+29delinsCT
ENST00000614595.2:n.2124+28_2124+29delinsCT
ENST00000615658.5:n.1366+28_1366+29delinsCT
ENST00000616020.5:c.789+28_789+29delinsCT	ENSP00000483636.2:n.789+28_789+29delinsCT
ENST00000617701.5:c.*790+28_*790+29delinsCT	ENSP00000481645.1:n.*790+28_*790+29delinsCT
ENST00000651139.1:c.-7+28_-7+29delinsCT	ENSP00000498957.1:n.-7+28_-7+29delinsCT
ENST00000652354.1:c.459+28_459+29delinsCT	ENSP00000498734.1:n.459+28_459+29delinsCT
ENST00000652358.1:c.570+28_570+29delinsCT	ENSP00000498464.1:n.570+28_570+29delinsCT
ENST00000652390.1:c.696+28_696+29delinsCT	ENSP00000498858.1:n.696+28_696+29delinsCT
ENST00000652476.1:n.1443+28_1443+29delinsCT
ENST00000652644.1:c.390+28_390+29delinsCT	ENSP00000498496.1:n.390+28_390+29delinsCT
ENST00000652682.1:c.834+28_834+29delinsCT	ENSP00000498288.1:n.834+28_834+29delinsCT
ENST00000652685.1:n.1130+28_1130+29delinsCT
ENST00000369776.8:c.687+28_687+29delinsCT	ENSP00000358791.4:n.687+28_687+29delinsCT
ENST00000426231.5:c.774+28_774+29delinsCT
ENST00000475699.5:c.735+28_735+29delinsCT	ENSP00000419854.2:n.735+28_735+29delinsCT
ENST00000494912.5:n.1466+28_1466+29delinsCT
ENST00000498029.1:n.235+28_235+29delinsCT
ENST00000601016.5:c.777+28_777+29delinsCT	ENSP00000469981.1:n.777+28_777+29delinsCT
ENST00000612460.4:c.687+28_687+29delinsCT	ENSP00000481037.1:n.687+28_687+29delinsCT
ENST00000613002.4:c.645+28_645+29delinsCT	ENSP00000478154.1:n.645+28_645+29delinsCT
ENST00000615986.4:c.*505+28_*505+29delinsCT	ENSP00000480133.1:n.*505+28_*505+29delinsCT
NM_000116.4:c.777+28_777+29delinsCT	NP_000107.1:n.777+28_777+29delinsCT
NM_001303465.1:c.789+28_789+29delinsCT	NP_001290394.1:n.789+28_789+29delinsCT
NM_181311.3:c.687+28_687+29delinsCT	NP_851828.1:n.687+28_687+29delinsCT
NM_181312.3:c.735+28_735+29delinsCT	NP_851829.1:n.735+28_735+29delinsCT
NM_181313.3:c.645+28_645+29delinsCT	NP_851830.1:n.645+28_645+29delinsCT
NR_024048.2:n.1119+28_1119+29delinsCT
XM_006724836.1:c.831+28_831+29delinsCT	XP_006724899.1:n.831+28_831+29delinsCT
XM_006724837.1:c.816+28_816+29delinsCT	XP_006724900.1:n.816+28_816+29delinsCT
XM_006724839.1:c.699+28_699+29delinsCT	XP_006724902.1:n.699+28_699+29delinsCT
XM_006724841.2:c.570+28_570+29delinsCT	XP_006724904.1:n.570+28_570+29delinsCT
XM_006724842.2:c.480+28_480+29delinsCT	XP_006724905.1:n.480+28_480+29delinsCT
XM_011531189.1:c.618+28_618+29delinsCT	XP_011529491.1:n.618+28_618+29delinsCT
XM_011531190.1:c.570+28_570+29delinsCT	XP_011529492.1:n.570+28_570+29delinsCT
XM_011531191.1:c.501+28_501+29delinsCT	XP_011529493.1:n.501+28_501+29delinsCT
XM_011531192.1:c.498+28_498+29delinsCT	XP_011529494.1:n.498+28_498+29delinsCT
XR_938511.1:n.1125+28_1125+29delinsCT
XM_006724841.4:c.570+28_570+29delinsCT	XP_006724904.1:n.570+28_570+29delinsCT
XM_006724842.4:c.480+28_480+29delinsCT	XP_006724905.1:n.480+28_480+29delinsCT
XM_011531191.2:c.501+28_501+29delinsCT	XP_011529493.1:n.501+28_501+29delinsCT
XM_017029761.1:c.762+28_762+29delinsCT	XP_016885250.1:n.762+28_762+29delinsCT
XM_017029762.1:c.741+28_741+29delinsCT	XP_016885251.1:n.741+28_741+29delinsCT
XM_017029763.1:c.564+28_564+29delinsCT	XP_016885252.1:n.564+28_564+29delinsCT
XM_017029764.1:c.498+28_498+29delinsCT	XP_016885253.1:n.498+28_498+29delinsCT
XM_017029765.2:c.438+28_438+29delinsCT	XP_016885254.1:n.438+28_438+29delinsCT
XM_024452431.1:c.735+28_735+29delinsCT	XP_024308199.1:n.735+28_735+29delinsCT
NM_000116.5:c.777+28_777+29delinsCT MANE Select	NP_000107.1:n.777+28_777+29delinsCT
NM_001303465.2:c.789+28_789+29delinsCT	NP_001290394.1:n.789+28_789+29delinsCT
NM_181311.4:c.687+28_687+29delinsCT	NP_851828.1:n.687+28_687+29delinsCT
NM_181312.4:c.735+28_735+29delinsCT	NP_851829.1:n.735+28_735+29delinsCT
NM_181313.4:c.645+28_645+29delinsCT	NP_851830.1:n.645+28_645+29delinsCT
NR_024048.3:n.1098+28_1098+29delinsCT