Canonical Allele Identifier: CA645174566

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1485923597
• gnomAD v2: X-153648915-T-TA
• gnomAD v3: X-154420576-T-TA
• gnomAD v4: X-154420576-T-TA
• MyVariant Identifiers: chrX:g.153648915_153648916insA (hg19) ; chrX:g.154420576_154420577insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420577dup , CM000685.2:g.154420577dup	GRCh38
NC_000023.10:g.153648916dup , CM000685.1:g.153648916dup	GRCh37
NC_000023.9:g.153302110dup	NCBI36
NG_009634.1:g.14040dup
NG_009634.2:g.14043dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1510-81dup
ENST00000698317.1:n.2126-81dup
ENST00000698318.1:n.1909-81dup
ENST00000698319.1:n.1272-81dup
ENST00000698320.1:n.1160-81dup
ENST00000470127.2:n.1173-81dup
ENST00000475699.6:c.664-81dup	ENSP00000419854.3:n.664-81dup
ENST00000483674.3:n.582-81dup
ENST00000601016.6:c.700-81dup MANE Select	ENSP00000469981.1:n.700-81dup
ENST00000612012.5:c.658-81dup	ENSP00000482070.2:n.658-81dup
ENST00000612460.5:c.610-81dup	ENSP00000481037.1:n.610-81dup
ENST00000614595.2:n.2047-81dup
ENST00000615658.5:n.1289-81dup
ENST00000616020.5:c.712-81dup	ENSP00000483636.2:n.712-81dup
ENST00000617701.5:c.*713-81dup	ENSP00000481645.1:n.*713-81dup
ENST00000651139.1:c.-84-81dup	ENSP00000498957.1:n.-84-81dup
ENST00000652354.1:c.382-81dup	ENSP00000498734.1:n.382-81dup
ENST00000652358.1:c.493-81dup	ENSP00000498464.1:n.493-81dup
ENST00000652390.1:c.619-81dup	ENSP00000498858.1:n.619-81dup
ENST00000652476.1:n.1366-81dup
ENST00000652644.1:c.313-81dup	ENSP00000498496.1:n.313-81dup
ENST00000652682.1:c.757-81dup	ENSP00000498288.1:n.757-81dup
ENST00000652685.1:n.1053-81dup
ENST00000369776.8:c.610-81dup	ENSP00000358791.4:n.610-81dup
ENST00000426231.5:c.697-81dup
ENST00000475699.5:c.658-81dup	ENSP00000419854.2:n.658-81dup
ENST00000494912.5:n.1389-81dup
ENST00000498029.1:n.158-81dup
ENST00000601016.5:c.700-81dup	ENSP00000469981.1:n.700-81dup
ENST00000612460.4:c.610-81dup	ENSP00000481037.1:n.610-81dup
ENST00000613002.4:c.568-81dup	ENSP00000478154.1:n.568-81dup
ENST00000615986.4:c.*428-81dup	ENSP00000480133.1:n.*428-81dup
NM_000116.4:c.700-81dup	NP_000107.1:n.700-81dup
NM_001303465.1:c.712-81dup	NP_001290394.1:n.712-81dup
NM_181311.3:c.610-81dup	NP_851828.1:n.610-81dup
NM_181312.3:c.658-81dup	NP_851829.1:n.658-81dup
NM_181313.3:c.568-81dup	NP_851830.1:n.568-81dup
NR_024048.2:n.1042-81dup
XM_006724836.1:c.754-81dup	XP_006724899.1:n.754-81dup
XM_006724837.1:c.739-81dup	XP_006724900.1:n.739-81dup
XM_006724839.1:c.622-81dup	XP_006724902.1:n.622-81dup
XM_006724841.2:c.493-81dup	XP_006724904.1:n.493-81dup
XM_006724842.2:c.403-81dup	XP_006724905.1:n.403-81dup
XM_011531189.1:c.541-81dup	XP_011529491.1:n.541-81dup
XM_011531190.1:c.493-81dup	XP_011529492.1:n.493-81dup
XM_011531191.1:c.424-81dup	XP_011529493.1:n.424-81dup
XM_011531192.1:c.421-81dup	XP_011529494.1:n.421-81dup
XR_938511.1:n.1048-81dup
XM_006724841.4:c.493-81dup	XP_006724904.1:n.493-81dup
XM_006724842.4:c.403-81dup	XP_006724905.1:n.403-81dup
XM_011531191.2:c.424-81dup	XP_011529493.1:n.424-81dup
XM_017029761.1:c.685-81dup	XP_016885250.1:n.685-81dup
XM_017029762.1:c.664-81dup	XP_016885251.1:n.664-81dup
XM_017029763.1:c.487-81dup	XP_016885252.1:n.487-81dup
XM_017029764.1:c.421-81dup	XP_016885253.1:n.421-81dup
XM_017029765.2:c.361-81dup	XP_016885254.1:n.361-81dup
XM_024452431.1:c.658-81dup	XP_024308199.1:n.658-81dup
NM_000116.5:c.700-81dup MANE Select	NP_000107.1:n.700-81dup
NM_001303465.2:c.712-81dup	NP_001290394.1:n.712-81dup
NM_181311.4:c.610-81dup	NP_851828.1:n.610-81dup
NM_181312.4:c.658-81dup	NP_851829.1:n.658-81dup
NM_181313.4:c.568-81dup	NP_851830.1:n.568-81dup
NR_024048.3:n.1021-81dup