Canonical Allele Identifier: CA273527

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 177908
• ClinVar RCV Id: RCV000154564
• dbSNP Id: rs727504394
• MyVariant Identifiers: chrX:g.153649007_153649008del (hg19) ; chrX:g.154420668_154420669del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420668_154420669del , CM000685.2:g.154420668_154420669del	GRCh38
NC_000023.10:g.153649007_153649008del , CM000685.1:g.153649007_153649008del	GRCh37
NC_000023.9:g.153302201_153302202del	NCBI36
NG_009634.1:g.14131_14132del
NG_009634.2:g.14134_14135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1520_1521del
ENST00000698317.1:n.2136_2137del
ENST00000698318.1:n.1919_1920del
ENST00000698319.1:n.1282_1283del
ENST00000698320.1:n.1170_1171del
ENST00000470127.2:n.1183_1184del
ENST00000475699.6:c.674_675del	ENSP00000419854.3:p.Val225AlafsTer?
ENST00000483674.3:n.592_593del
ENST00000601016.6:c.710_711del MANE Select	ENSP00000469981.1:p.Val237AlafsTer?
ENST00000612012.5:c.668_669del	ENSP00000482070.2:p.Val223AlafsTer?
ENST00000612460.5:c.620_621del	ENSP00000481037.1:p.Val207AlafsTer?
ENST00000614595.2:n.2057_2058del
ENST00000615658.5:n.1299_1300del
ENST00000616020.5:c.722_723del	ENSP00000483636.2:p.Val241AlafsTer?
ENST00000617701.5:c.*723_*724del	ENSP00000481645.1:n.*723_*724del
ENST00000651139.1:c.-74_-73del	ENSP00000498957.1:n.-74_-73del
ENST00000652354.1:c.392_393del	ENSP00000498734.1:p.Val131AlafsTer?
ENST00000652358.1:c.503_504del	ENSP00000498464.1:p.Val168AlafsTer?
ENST00000652390.1:c.629_630del	ENSP00000498858.1:p.Val210AlafsTer?
ENST00000652476.1:n.1376_1377del
ENST00000652644.1:c.323_324del	ENSP00000498496.1:p.Val108AlafsTer?
ENST00000652682.1:c.767_768del	ENSP00000498288.1:p.Val256AlafsTer?
ENST00000652685.1:n.1063_1064del
ENST00000369776.8:c.620_621del	ENSP00000358791.4:p.Val207AlafsTer?
ENST00000426231.5:c.707_708del
ENST00000475699.5:c.668_669del	ENSP00000419854.2:p.Val223AlafsTer?
ENST00000494912.5:n.1399_1400del
ENST00000498029.1:n.168_169del
ENST00000601016.5:c.710_711del	ENSP00000469981.1:p.Val237AlafsTer?
ENST00000612460.4:c.620_621del	ENSP00000481037.1:p.Val207AlafsTer?
ENST00000613002.4:c.578_579del	ENSP00000478154.1:p.Val193AlafsTer?
ENST00000615986.4:c.*438_*439del	ENSP00000480133.1:n.*438_*439del
NM_000116.4:c.710_711del	NP_000107.1:p.Val237AlafsTer?
NM_001303465.1:c.722_723del	NP_001290394.1:p.Val241AlafsTer?
NM_181311.3:c.620_621del	NP_851828.1:p.Val207AlafsTer?
NM_181312.3:c.668_669del	NP_851829.1:p.Val223AlafsTer?
NM_181313.3:c.578_579del	NP_851830.1:p.Val193AlafsTer?
NR_024048.2:n.1052_1053del
XM_006724836.1:c.764_765del	XP_006724899.1:p.Val255AlafsTer?
XM_006724837.1:c.749_750del	XP_006724900.1:p.Val250AlafsTer?
XM_006724839.1:c.632_633del	XP_006724902.1:p.Val211AlafsTer?
XM_006724841.2:c.503_504del	XP_006724904.1:p.Val168AlafsTer?
XM_006724842.2:c.413_414del	XP_006724905.1:p.Val138AlafsTer?
XM_011531189.1:c.551_552del	XP_011529491.1:p.Val184AlafsTer?
XM_011531190.1:c.503_504del	XP_011529492.1:p.Val168AlafsTer?
XM_011531191.1:c.434_435del	XP_011529493.1:p.Val145AlafsTer?
XM_011531192.1:c.431_432del	XP_011529494.1:p.Val144AlafsTer?
XR_938511.1:n.1058_1059del
XM_006724841.4:c.503_504del	XP_006724904.1:p.Val168AlafsTer?
XM_006724842.4:c.413_414del	XP_006724905.1:p.Val138AlafsTer?
XM_011531191.2:c.434_435del	XP_011529493.1:p.Val145AlafsTer?
XM_017029761.1:c.695_696del	XP_016885250.1:p.Val232AlafsTer?
XM_017029762.1:c.674_675del	XP_016885251.1:p.Val225AlafsTer?
XM_017029763.1:c.497_498del	XP_016885252.1:p.Val166AlafsTer?
XM_017029764.1:c.431_432del	XP_016885253.1:p.Val144AlafsTer?
XM_017029765.2:c.371_372del	XP_016885254.1:p.Val124AlafsTer?
XM_024452431.1:c.668_669del	XP_024308199.1:p.Val223AlafsTer?
NM_000116.5:c.710_711del MANE Select	NP_000107.1:p.Val237AlafsTer?
NM_001303465.2:c.722_723del	NP_001290394.1:p.Val241AlafsTer?
NM_181311.4:c.620_621del	NP_851828.1:p.Val207AlafsTer?
NM_181312.4:c.668_669del	NP_851829.1:p.Val223AlafsTer?
NM_181313.4:c.578_579del	NP_851830.1:p.Val193AlafsTer?
NR_024048.3:n.1031_1032del