Canonical Allele Identifier: CA873333877

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1250125609
• gnomAD v3: X-154412272-A-AG
• gnomAD v4: X-154412272-A-AG
• MyVariant Identifiers: chrX:g.154412272_154412273insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412273dup , CM000685.2:g.154412273dup	GRCh38
NC_000023.10:g.153640610dup , CM000685.1:g.153640610dup	GRCh37
NC_000023.9:g.153293804dup	NCBI36
NG_009634.1:g.5734dup
NG_012884.2:g.4816dup
NG_009634.2:g.5739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.666+59dup
ENST00000698235.1:n.225+59dup
ENST00000698317.1:n.259dup
ENST00000698318.1:n.120dup
ENST00000475699.6:c.292+59dup	ENSP00000419854.3:n.292+59dup
ENST00000476800.2:n.262dup
ENST00000483674.3:n.129+59dup
ENST00000601016.6:c.238+59dup MANE Select	ENSP00000469981.1:n.238+59dup
ENST00000612012.5:c.238+59dup	ENSP00000482070.2:n.238+59dup
ENST00000612460.5:c.238+59dup	ENSP00000481037.1:n.238+59dup
ENST00000614595.2:n.655dup
ENST00000615658.5:n.551+59dup
ENST00000616020.5:c.292+59dup	ENSP00000483636.2:n.292+59dup
ENST00000617701.5:c.238+59dup	ENSP00000481645.1:n.238+59dup
ENST00000621647.2:n.291+59dup
ENST00000652358.1:c.-57+321dup	ENSP00000498464.1:n.-57+321dup
ENST00000652390.1:c.157+59dup	ENSP00000498858.1:n.157+59dup
ENST00000652476.1:n.399+59dup
ENST00000652682.1:c.238+59dup	ENSP00000498288.1:n.238+59dup
ENST00000652685.1:n.290+59dup
ENST00000369776.8:c.163+267dup	ENSP00000358791.4:n.163+267dup
ENST00000426231.5:c.54+59dup
ENST00000439735.2:c.238+59dup	ENSP00000398193.1:n.238+59dup
ENST00000475699.5:c.238+59dup	ENSP00000419854.2:n.238+59dup
ENST00000483780.5:n.12+59dup
ENST00000601016.5:c.238+59dup	ENSP00000469981.1:n.238+59dup
ENST00000612012.4:c.292+59dup	ENSP00000482070.1:n.292+59dup
ENST00000612460.4:c.238+59dup	ENSP00000481037.1:n.238+59dup
ENST00000613002.4:c.238+59dup	ENSP00000478154.1:n.238+59dup
ENST00000613634.4:n.558+59dup
ENST00000614595.1:n.516dup
ENST00000615658.4:n.564+59dup
ENST00000615986.4:c.238+59dup	ENSP00000480133.1:n.238+59dup
ENST00000616020.4:c.292+59dup	ENSP00000483636.1:n.292+59dup
ENST00000617701.4:c.238+59dup	ENSP00000481645.1:n.238+59dup
ENST00000620808.4:c.238+59dup	ENSP00000479311.1:n.238+59dup
ENST00000621647.1:n.523+59dup
NM_000116.4:c.238+59dup	NP_000107.1:n.238+59dup
NM_001303465.1:c.292+59dup	NP_001290394.1:n.292+59dup
NM_181311.3:c.238+59dup	NP_851828.1:n.238+59dup
NM_181312.3:c.238+59dup	NP_851829.1:n.238+59dup
NM_181313.3:c.238+59dup	NP_851830.1:n.238+59dup
NR_024048.2:n.564+59dup
XM_006724836.1:c.292+59dup	XP_006724899.1:n.292+59dup
XM_006724837.1:c.292+59dup	XP_006724900.1:n.292+59dup
XM_006724839.1:c.292+59dup	XP_006724902.1:n.292+59dup
XM_006724841.2:c.-57+59dup	XP_006724904.1:n.-57+59dup
XM_006724842.2:c.-57+59dup	XP_006724905.1:n.-57+59dup
XM_011531189.1:c.292+59dup	XP_011529491.1:n.292+59dup
XM_011531190.1:c.-758dup	XP_011529492.1:n.-758dup
XM_011531191.1:c.-740dup	XP_011529493.1:n.-740dup
XM_011531192.1:c.-861dup	XP_011529494.1:n.-861dup
XR_938511.1:n.595+59dup
XM_006724841.4:c.-57+59dup	XP_006724904.1:n.-57+59dup
XM_006724842.4:c.-57+59dup	XP_006724905.1:n.-57+59dup
XM_011531191.2:c.-740dup	XP_011529493.1:n.-740dup
XM_017029761.1:c.238+59dup	XP_016885250.1:n.238+59dup
XM_017029762.1:c.292+59dup	XP_016885251.1:n.292+59dup
XM_017029763.1:c.238+59dup	XP_016885252.1:n.238+59dup
XM_017029765.2:c.-57+59dup	XP_016885254.1:n.-57+59dup
XM_024452431.1:c.292+59dup	XP_024308199.1:n.292+59dup
NM_000116.5:c.238+59dup MANE Select	NP_000107.1:n.238+59dup
NM_001303465.2:c.292+59dup	NP_001290394.1:n.292+59dup
NM_181311.4:c.238+59dup	NP_851828.1:n.238+59dup
NM_181312.4:c.238+59dup	NP_851829.1:n.238+59dup
NM_181313.4:c.238+59dup	NP_851830.1:n.238+59dup
NR_024048.3:n.543+59dup