Canonical Allele Identifier: CA2695120407

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420786-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420786_154420787insAA , CM000685.2:g.154420786_154420787insAA	GRCh38
NC_000023.10:g.153649125_153649126insAA , CM000685.1:g.153649125_153649126insAA	GRCh37
NC_000023.9:g.153302319_153302320insAA	NCBI36
NG_009634.1:g.14249_14250insAA
NG_009634.2:g.14252_14253insAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1587+51_1587+52insAA
ENST00000698317.1:n.2203+51_2203+52insAA
ENST00000698318.1:n.1986+51_1986+52insAA
ENST00000698319.1:n.1349+51_1349+52insAA
ENST00000698320.1:n.1288_1289insAA
ENST00000470127.2:n.1250+51_1250+52insAA
ENST00000475699.6:c.741+51_741+52insAA	ENSP00000419854.3:n.741+51_741+52insAA
ENST00000483674.3:n.659+51_659+52insAA
ENST00000601016.6:c.777+51_777+52insAA MANE Select	ENSP00000469981.1:n.777+51_777+52insAA
ENST00000612012.5:c.735+51_735+52insAA	ENSP00000482070.2:n.735+51_735+52insAA
ENST00000612460.5:c.687+51_687+52insAA	ENSP00000481037.1:n.687+51_687+52insAA
ENST00000614595.2:n.2124+51_2124+52insAA
ENST00000615658.5:n.1366+51_1366+52insAA
ENST00000616020.5:c.789+51_789+52insAA	ENSP00000483636.2:n.789+51_789+52insAA
ENST00000617701.5:c.*790+51_*790+52insAA	ENSP00000481645.1:n.*790+51_*790+52insAA
ENST00000651139.1:c.-7+51_-7+52insAA	ENSP00000498957.1:n.-7+51_-7+52insAA
ENST00000652354.1:c.459+51_459+52insAA	ENSP00000498734.1:n.459+51_459+52insAA
ENST00000652358.1:c.570+51_570+52insAA	ENSP00000498464.1:n.570+51_570+52insAA
ENST00000652390.1:c.696+51_696+52insAA	ENSP00000498858.1:n.696+51_696+52insAA
ENST00000652476.1:n.1443+51_1443+52insAA
ENST00000652644.1:c.390+51_390+52insAA	ENSP00000498496.1:n.390+51_390+52insAA
ENST00000652682.1:c.834+51_834+52insAA	ENSP00000498288.1:n.834+51_834+52insAA
ENST00000652685.1:n.1130+51_1130+52insAA
ENST00000369776.8:c.687+51_687+52insAA	ENSP00000358791.4:n.687+51_687+52insAA
ENST00000426231.5:c.774+51_774+52insAA
ENST00000475699.5:c.735+51_735+52insAA	ENSP00000419854.2:n.735+51_735+52insAA
ENST00000494912.5:n.1466+51_1466+52insAA
ENST00000498029.1:n.235+51_235+52insAA
ENST00000601016.5:c.777+51_777+52insAA	ENSP00000469981.1:n.777+51_777+52insAA
ENST00000612460.4:c.687+51_687+52insAA	ENSP00000481037.1:n.687+51_687+52insAA
ENST00000613002.4:c.645+51_645+52insAA	ENSP00000478154.1:n.645+51_645+52insAA
ENST00000615986.4:c.*505+51_*505+52insAA	ENSP00000480133.1:n.*505+51_*505+52insAA
NM_000116.4:c.777+51_777+52insAA	NP_000107.1:n.777+51_777+52insAA
NM_001303465.1:c.789+51_789+52insAA	NP_001290394.1:n.789+51_789+52insAA
NM_181311.3:c.687+51_687+52insAA	NP_851828.1:n.687+51_687+52insAA
NM_181312.3:c.735+51_735+52insAA	NP_851829.1:n.735+51_735+52insAA
NM_181313.3:c.645+51_645+52insAA	NP_851830.1:n.645+51_645+52insAA
NR_024048.2:n.1119+51_1119+52insAA
XM_006724836.1:c.831+51_831+52insAA	XP_006724899.1:n.831+51_831+52insAA
XM_006724837.1:c.816+51_816+52insAA	XP_006724900.1:n.816+51_816+52insAA
XM_006724839.1:c.699+51_699+52insAA	XP_006724902.1:n.699+51_699+52insAA
XM_006724841.2:c.570+51_570+52insAA	XP_006724904.1:n.570+51_570+52insAA
XM_006724842.2:c.480+51_480+52insAA	XP_006724905.1:n.480+51_480+52insAA
XM_011531189.1:c.618+51_618+52insAA	XP_011529491.1:n.618+51_618+52insAA
XM_011531190.1:c.570+51_570+52insAA	XP_011529492.1:n.570+51_570+52insAA
XM_011531191.1:c.501+51_501+52insAA	XP_011529493.1:n.501+51_501+52insAA
XM_011531192.1:c.498+51_498+52insAA	XP_011529494.1:n.498+51_498+52insAA
XR_938511.1:n.1125+51_1125+52insAA
XM_006724841.4:c.570+51_570+52insAA	XP_006724904.1:n.570+51_570+52insAA
XM_006724842.4:c.480+51_480+52insAA	XP_006724905.1:n.480+51_480+52insAA
XM_011531191.2:c.501+51_501+52insAA	XP_011529493.1:n.501+51_501+52insAA
XM_017029761.1:c.762+51_762+52insAA	XP_016885250.1:n.762+51_762+52insAA
XM_017029762.1:c.741+51_741+52insAA	XP_016885251.1:n.741+51_741+52insAA
XM_017029763.1:c.564+51_564+52insAA	XP_016885252.1:n.564+51_564+52insAA
XM_017029764.1:c.498+51_498+52insAA	XP_016885253.1:n.498+51_498+52insAA
XM_017029765.2:c.438+51_438+52insAA	XP_016885254.1:n.438+51_438+52insAA
XM_024452431.1:c.735+51_735+52insAA	XP_024308199.1:n.735+51_735+52insAA
NM_000116.5:c.777+51_777+52insAA MANE Select	NP_000107.1:n.777+51_777+52insAA
NM_001303465.2:c.789+51_789+52insAA	NP_001290394.1:n.789+51_789+52insAA
NM_181311.4:c.687+51_687+52insAA	NP_851828.1:n.687+51_687+52insAA
NM_181312.4:c.735+51_735+52insAA	NP_851829.1:n.735+51_735+52insAA
NM_181313.4:c.645+51_645+52insAA	NP_851830.1:n.645+51_645+52insAA
NR_024048.3:n.1098+51_1098+52insAA