Canonical Allele Identifier: CA2695120413

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420791-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420791_154420792insAG , CM000685.2:g.154420791_154420792insAG	GRCh38
NC_000023.10:g.153649130_153649131insAG , CM000685.1:g.153649130_153649131insAG	GRCh37
NC_000023.9:g.153302324_153302325insAG	NCBI36
NG_009634.1:g.14254_14255insAG
NG_009634.2:g.14257_14258insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1587+56_1587+57insAG
ENST00000698317.1:n.2203+56_2203+57insAG
ENST00000698318.1:n.1986+56_1986+57insAG
ENST00000698319.1:n.1349+56_1349+57insAG
ENST00000698320.1:n.1293_1294insAG
ENST00000470127.2:n.1250+56_1250+57insAG
ENST00000475699.6:c.741+56_741+57insAG	ENSP00000419854.3:n.741+56_741+57insAG
ENST00000483674.3:n.659+56_659+57insAG
ENST00000601016.6:c.777+56_777+57insAG MANE Select	ENSP00000469981.1:n.777+56_777+57insAG
ENST00000612012.5:c.735+56_735+57insAG	ENSP00000482070.2:n.735+56_735+57insAG
ENST00000612460.5:c.687+56_687+57insAG	ENSP00000481037.1:n.687+56_687+57insAG
ENST00000614595.2:n.2124+56_2124+57insAG
ENST00000615658.5:n.1366+56_1366+57insAG
ENST00000616020.5:c.789+56_789+57insAG	ENSP00000483636.2:n.789+56_789+57insAG
ENST00000617701.5:c.*790+56_*790+57insAG	ENSP00000481645.1:n.*790+56_*790+57insAG
ENST00000651139.1:c.-7+56_-7+57insAG	ENSP00000498957.1:n.-7+56_-7+57insAG
ENST00000652354.1:c.459+56_459+57insAG	ENSP00000498734.1:n.459+56_459+57insAG
ENST00000652358.1:c.570+56_570+57insAG	ENSP00000498464.1:n.570+56_570+57insAG
ENST00000652390.1:c.696+56_696+57insAG	ENSP00000498858.1:n.696+56_696+57insAG
ENST00000652476.1:n.1443+56_1443+57insAG
ENST00000652644.1:c.390+56_390+57insAG	ENSP00000498496.1:n.390+56_390+57insAG
ENST00000652682.1:c.834+56_834+57insAG	ENSP00000498288.1:n.834+56_834+57insAG
ENST00000652685.1:n.1130+56_1130+57insAG
ENST00000369776.8:c.687+56_687+57insAG	ENSP00000358791.4:n.687+56_687+57insAG
ENST00000426231.5:c.774+56_774+57insAG
ENST00000475699.5:c.735+56_735+57insAG	ENSP00000419854.2:n.735+56_735+57insAG
ENST00000494912.5:n.1466+56_1466+57insAG
ENST00000498029.1:n.235+56_235+57insAG
ENST00000601016.5:c.777+56_777+57insAG	ENSP00000469981.1:n.777+56_777+57insAG
ENST00000612460.4:c.687+56_687+57insAG	ENSP00000481037.1:n.687+56_687+57insAG
ENST00000613002.4:c.645+56_645+57insAG	ENSP00000478154.1:n.645+56_645+57insAG
ENST00000615986.4:c.*505+56_*505+57insAG	ENSP00000480133.1:n.*505+56_*505+57insAG
NM_000116.4:c.777+56_777+57insAG	NP_000107.1:n.777+56_777+57insAG
NM_001303465.1:c.789+56_789+57insAG	NP_001290394.1:n.789+56_789+57insAG
NM_181311.3:c.687+56_687+57insAG	NP_851828.1:n.687+56_687+57insAG
NM_181312.3:c.735+56_735+57insAG	NP_851829.1:n.735+56_735+57insAG
NM_181313.3:c.645+56_645+57insAG	NP_851830.1:n.645+56_645+57insAG
NR_024048.2:n.1119+56_1119+57insAG
XM_006724836.1:c.831+56_831+57insAG	XP_006724899.1:n.831+56_831+57insAG
XM_006724837.1:c.816+56_816+57insAG	XP_006724900.1:n.816+56_816+57insAG
XM_006724839.1:c.699+56_699+57insAG	XP_006724902.1:n.699+56_699+57insAG
XM_006724841.2:c.570+56_570+57insAG	XP_006724904.1:n.570+56_570+57insAG
XM_006724842.2:c.480+56_480+57insAG	XP_006724905.1:n.480+56_480+57insAG
XM_011531189.1:c.618+56_618+57insAG	XP_011529491.1:n.618+56_618+57insAG
XM_011531190.1:c.570+56_570+57insAG	XP_011529492.1:n.570+56_570+57insAG
XM_011531191.1:c.501+56_501+57insAG	XP_011529493.1:n.501+56_501+57insAG
XM_011531192.1:c.498+56_498+57insAG	XP_011529494.1:n.498+56_498+57insAG
XR_938511.1:n.1125+56_1125+57insAG
XM_006724841.4:c.570+56_570+57insAG	XP_006724904.1:n.570+56_570+57insAG
XM_006724842.4:c.480+56_480+57insAG	XP_006724905.1:n.480+56_480+57insAG
XM_011531191.2:c.501+56_501+57insAG	XP_011529493.1:n.501+56_501+57insAG
XM_017029761.1:c.762+56_762+57insAG	XP_016885250.1:n.762+56_762+57insAG
XM_017029762.1:c.741+56_741+57insAG	XP_016885251.1:n.741+56_741+57insAG
XM_017029763.1:c.564+56_564+57insAG	XP_016885252.1:n.564+56_564+57insAG
XM_017029764.1:c.498+56_498+57insAG	XP_016885253.1:n.498+56_498+57insAG
XM_017029765.2:c.438+56_438+57insAG	XP_016885254.1:n.438+56_438+57insAG
XM_024452431.1:c.735+56_735+57insAG	XP_024308199.1:n.735+56_735+57insAG
NM_000116.5:c.777+56_777+57insAG MANE Select	NP_000107.1:n.777+56_777+57insAG
NM_001303465.2:c.789+56_789+57insAG	NP_001290394.1:n.789+56_789+57insAG
NM_181311.4:c.687+56_687+57insAG	NP_851828.1:n.687+56_687+57insAG
NM_181312.4:c.735+56_735+57insAG	NP_851829.1:n.735+56_735+57insAG
NM_181313.4:c.645+56_645+57insAG	NP_851830.1:n.645+56_645+57insAG
NR_024048.3:n.1098+56_1098+57insAG