Canonical Allele Identifier: CA645290992

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1557193950
• gnomAD v2: X-153648119-T-TCCC
• gnomAD v4: X-154419780-T-TCCC
• MyVariant Identifiers: chrX:g.153648119_153648120insCCC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419781_154419783dup , CM000685.2:g.154419781_154419783dup	GRCh38
NC_000023.10:g.153648120_153648122dup , CM000685.1:g.153648120_153648122dup	GRCh37
NC_000023.9:g.153301314_153301316dup	NCBI36
NG_009634.1:g.13244_13246dup
NG_009634.2:g.13247_13249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1143_1145dup
ENST00000698317.1:n.1759_1761dup
ENST00000698318.1:n.1542_1544dup
ENST00000698319.1:n.905_907dup
ENST00000698320.1:n.793_795dup
ENST00000470127.2:n.806_808dup
ENST00000475699.6:c.547+35_547+37dup	ENSP00000419854.3:n.547+35_547+37dup
ENST00000483674.3:n.465+35_465+37dup
ENST00000601016.6:c.583+35_583+37dup MANE Select	ENSP00000469981.1:n.583+35_583+37dup
ENST00000612012.5:c.541+158_541+160dup	ENSP00000482070.2:n.541+158_541+160dup
ENST00000612460.5:c.493+35_493+37dup	ENSP00000481037.1:n.493+35_493+37dup
ENST00000614595.2:n.1930+35_1930+37dup
ENST00000615658.5:n.922_924dup
ENST00000616020.5:c.595+158_595+160dup	ENSP00000483636.2:n.595+158_595+160dup
ENST00000617701.5:c.*346_*348dup	ENSP00000481645.1:n.*346_*348dup
ENST00000652354.1:c.265+158_265+160dup	ENSP00000498734.1:n.265+158_265+160dup
ENST00000652358.1:c.376+35_376+37dup	ENSP00000498464.1:n.376+35_376+37dup
ENST00000652390.1:c.502+35_502+37dup	ENSP00000498858.1:n.502+35_502+37dup
ENST00000652476.1:n.999_1001dup
ENST00000652644.1:c.196+35_196+37dup	ENSP00000498496.1:n.196+35_196+37dup
ENST00000652682.1:c.640+35_640+37dup	ENSP00000498288.1:n.640+35_640+37dup
ENST00000652685.1:n.686_688dup
ENST00000369776.8:c.376+158_376+160dup	ENSP00000358791.4:n.376+158_376+160dup
ENST00000426231.5:c.580+35_580+37dup
ENST00000439735.2:c.490+35_490+37dup	ENSP00000398193.1:n.490+35_490+37dup
ENST00000470127.1:n.162+35_162+37dup
ENST00000475699.5:c.541+158_541+160dup	ENSP00000419854.2:n.541+158_541+160dup
ENST00000476679.5:n.612_614dup
ENST00000483780.5:n.383_385dup
ENST00000494912.5:n.1272+35_1272+37dup
ENST00000601016.5:c.583+35_583+37dup	ENSP00000469981.1:n.583+35_583+37dup
ENST00000612012.4:c.547+35_547+37dup	ENSP00000482070.1:n.547+35_547+37dup
ENST00000612460.4:c.493+35_493+37dup	ENSP00000481037.1:n.493+35_493+37dup
ENST00000613002.4:c.451+158_451+160dup	ENSP00000478154.1:n.451+158_451+160dup
ENST00000613634.4:n.848_850dup
ENST00000615658.4:n.1022_1024dup
ENST00000615986.4:c.*311+35_*311+37dup	ENSP00000480133.1:n.*311+35_*311+37dup
ENST00000620808.4:c.*170-251_*170-249dup	ENSP00000479311.1:n.*170-251_*170-249dup
NM_000116.4:c.583+35_583+37dup	NP_000107.1:n.583+35_583+37dup
NM_001303465.1:c.595+158_595+160dup	NP_001290394.1:n.595+158_595+160dup
NM_181311.3:c.493+35_493+37dup	NP_851828.1:n.493+35_493+37dup
NM_181312.3:c.541+158_541+160dup	NP_851829.1:n.541+158_541+160dup
NM_181313.3:c.451+158_451+160dup	NP_851830.1:n.451+158_451+160dup
NR_024048.2:n.925+35_925+37dup
XM_006724836.1:c.637+35_637+37dup	XP_006724899.1:n.637+35_637+37dup
XM_006724837.1:c.505+158_505+160dup	XP_006724900.1:n.505+158_505+160dup
XM_006724839.1:c.505+158_505+160dup	XP_006724902.1:n.505+158_505+160dup
XM_006724841.2:c.376+35_376+37dup	XP_006724904.1:n.376+35_376+37dup
XM_006724842.2:c.286+35_286+37dup	XP_006724905.1:n.286+35_286+37dup
XM_011531189.1:c.425-251_425-249dup	XP_011529491.1:n.425-251_425-249dup
XM_011531190.1:c.376+35_376+37dup	XP_011529492.1:n.376+35_376+37dup
XM_011531191.1:c.307+35_307+37dup	XP_011529493.1:n.307+35_307+37dup
XM_011531192.1:c.304+35_304+37dup	XP_011529494.1:n.304+35_304+37dup
XR_938511.1:n.931+35_931+37dup
XM_006724841.4:c.376+35_376+37dup	XP_006724904.1:n.376+35_376+37dup
XM_006724842.4:c.286+35_286+37dup	XP_006724905.1:n.286+35_286+37dup
XM_011531191.2:c.307+35_307+37dup	XP_011529493.1:n.307+35_307+37dup
XM_017029761.1:c.451+158_451+160dup	XP_016885250.1:n.451+158_451+160dup
XM_017029762.1:c.547+35_547+37dup	XP_016885251.1:n.547+35_547+37dup
XM_017029763.1:c.371-251_371-249dup	XP_016885252.1:n.371-251_371-249dup
XM_017029764.1:c.304+35_304+37dup	XP_016885253.1:n.304+35_304+37dup
XM_017029765.2:c.244+158_244+160dup	XP_016885254.1:n.244+158_244+160dup
XM_024452431.1:c.425-251_425-249dup	XP_024308199.1:n.425-251_425-249dup
NM_000116.5:c.583+35_583+37dup MANE Select	NP_000107.1:n.583+35_583+37dup
NM_001303465.2:c.595+158_595+160dup	NP_001290394.1:n.595+158_595+160dup
NM_181311.4:c.493+35_493+37dup	NP_851828.1:n.493+35_493+37dup
NM_181312.4:c.541+158_541+160dup	NP_851829.1:n.541+158_541+160dup
NM_181313.4:c.451+158_451+160dup	NP_851830.1:n.451+158_451+160dup
NR_024048.3:n.904+35_904+37dup