Canonical Allele Identifier: CA2695120409

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420788-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420789_154420790del , CM000685.2:g.154420789_154420790del	GRCh38
NC_000023.10:g.153649128_153649129del , CM000685.1:g.153649128_153649129del	GRCh37
NC_000023.9:g.153302322_153302323del	NCBI36
NG_009634.1:g.14252_14253del
NG_009634.2:g.14255_14256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1587+54_1587+55del
ENST00000698317.1:n.2203+54_2203+55del
ENST00000698318.1:n.1986+54_1986+55del
ENST00000698319.1:n.1349+54_1349+55del
ENST00000698320.1:n.1291_1292del
ENST00000470127.2:n.1250+54_1250+55del
ENST00000475699.6:c.741+54_741+55del	ENSP00000419854.3:n.741+54_741+55del
ENST00000483674.3:n.659+54_659+55del
ENST00000601016.6:c.777+54_777+55del MANE Select	ENSP00000469981.1:n.777+54_777+55del
ENST00000612012.5:c.735+54_735+55del	ENSP00000482070.2:n.735+54_735+55del
ENST00000612460.5:c.687+54_687+55del	ENSP00000481037.1:n.687+54_687+55del
ENST00000614595.2:n.2124+54_2124+55del
ENST00000615658.5:n.1366+54_1366+55del
ENST00000616020.5:c.789+54_789+55del	ENSP00000483636.2:n.789+54_789+55del
ENST00000617701.5:c.*790+54_*790+55del	ENSP00000481645.1:n.*790+54_*790+55del
ENST00000651139.1:c.-7+54_-7+55del	ENSP00000498957.1:n.-7+54_-7+55del
ENST00000652354.1:c.459+54_459+55del	ENSP00000498734.1:n.459+54_459+55del
ENST00000652358.1:c.570+54_570+55del	ENSP00000498464.1:n.570+54_570+55del
ENST00000652390.1:c.696+54_696+55del	ENSP00000498858.1:n.696+54_696+55del
ENST00000652476.1:n.1443+54_1443+55del
ENST00000652644.1:c.390+54_390+55del	ENSP00000498496.1:n.390+54_390+55del
ENST00000652682.1:c.834+54_834+55del	ENSP00000498288.1:n.834+54_834+55del
ENST00000652685.1:n.1130+54_1130+55del
ENST00000369776.8:c.687+54_687+55del	ENSP00000358791.4:n.687+54_687+55del
ENST00000426231.5:c.774+54_774+55del
ENST00000475699.5:c.735+54_735+55del	ENSP00000419854.2:n.735+54_735+55del
ENST00000494912.5:n.1466+54_1466+55del
ENST00000498029.1:n.235+54_235+55del
ENST00000601016.5:c.777+54_777+55del	ENSP00000469981.1:n.777+54_777+55del
ENST00000612460.4:c.687+54_687+55del	ENSP00000481037.1:n.687+54_687+55del
ENST00000613002.4:c.645+54_645+55del	ENSP00000478154.1:n.645+54_645+55del
ENST00000615986.4:c.*505+54_*505+55del	ENSP00000480133.1:n.*505+54_*505+55del
NM_000116.4:c.777+54_777+55del	NP_000107.1:n.777+54_777+55del
NM_001303465.1:c.789+54_789+55del	NP_001290394.1:n.789+54_789+55del
NM_181311.3:c.687+54_687+55del	NP_851828.1:n.687+54_687+55del
NM_181312.3:c.735+54_735+55del	NP_851829.1:n.735+54_735+55del
NM_181313.3:c.645+54_645+55del	NP_851830.1:n.645+54_645+55del
NR_024048.2:n.1119+54_1119+55del
XM_006724836.1:c.831+54_831+55del	XP_006724899.1:n.831+54_831+55del
XM_006724837.1:c.816+54_816+55del	XP_006724900.1:n.816+54_816+55del
XM_006724839.1:c.699+54_699+55del	XP_006724902.1:n.699+54_699+55del
XM_006724841.2:c.570+54_570+55del	XP_006724904.1:n.570+54_570+55del
XM_006724842.2:c.480+54_480+55del	XP_006724905.1:n.480+54_480+55del
XM_011531189.1:c.618+54_618+55del	XP_011529491.1:n.618+54_618+55del
XM_011531190.1:c.570+54_570+55del	XP_011529492.1:n.570+54_570+55del
XM_011531191.1:c.501+54_501+55del	XP_011529493.1:n.501+54_501+55del
XM_011531192.1:c.498+54_498+55del	XP_011529494.1:n.498+54_498+55del
XR_938511.1:n.1125+54_1125+55del
XM_006724841.4:c.570+54_570+55del	XP_006724904.1:n.570+54_570+55del
XM_006724842.4:c.480+54_480+55del	XP_006724905.1:n.480+54_480+55del
XM_011531191.2:c.501+54_501+55del	XP_011529493.1:n.501+54_501+55del
XM_017029761.1:c.762+54_762+55del	XP_016885250.1:n.762+54_762+55del
XM_017029762.1:c.741+54_741+55del	XP_016885251.1:n.741+54_741+55del
XM_017029763.1:c.564+54_564+55del	XP_016885252.1:n.564+54_564+55del
XM_017029764.1:c.498+54_498+55del	XP_016885253.1:n.498+54_498+55del
XM_017029765.2:c.438+54_438+55del	XP_016885254.1:n.438+54_438+55del
XM_024452431.1:c.735+54_735+55del	XP_024308199.1:n.735+54_735+55del
NM_000116.5:c.777+54_777+55del MANE Select	NP_000107.1:n.777+54_777+55del
NM_001303465.2:c.789+54_789+55del	NP_001290394.1:n.789+54_789+55del
NM_181311.4:c.687+54_687+55del	NP_851828.1:n.687+54_687+55del
NM_181312.4:c.735+54_735+55del	NP_851829.1:n.735+54_735+55del
NM_181313.4:c.645+54_645+55del	NP_851830.1:n.645+54_645+55del
NR_024048.3:n.1098+54_1098+55del