Canonical Allele Identifier: CA519278312

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1169713
• ClinVar RCV Id: RCV001521365 ; RCV001712940 ; RCV004550295
• dbSNP Id: rs782249471
• gnomAD v2: X-153649161-TCACCCTCCCAGGG-T
• gnomAD v3: X-154420822-TCACCCTCCCAGGG-T
• gnomAD v4: X-154420822-TCACCCTCCCAGGG-T
• MyVariant Identifiers: chrX:g.153649162_153649174del (hg19) ; chrX:g.154420823_154420835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420840_154420852del , CM000685.2:g.154420840_154420852del	GRCh38
NC_000023.10:g.153649179_153649191del , CM000685.1:g.153649179_153649191del	GRCh37
NC_000023.9:g.153302373_153302385del	NCBI36
NG_009634.1:g.14303_14315del
NG_009634.2:g.14306_14318del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1588-63_1588-51del
ENST00000698317.1:n.2204-63_2204-51del
ENST00000698318.1:n.1987-63_1987-51del
ENST00000698319.1:n.1350-63_1350-51del
ENST00000698320.1:n.1342_1354del
ENST00000470127.2:n.1251-63_1251-51del
ENST00000475699.6:c.742-63_742-51del	ENSP00000419854.3:n.742-63_742-51del
ENST00000483674.3:n.660-63_660-51del
ENST00000601016.6:c.778-63_778-51del MANE Select	ENSP00000469981.1:n.778-63_778-51del
ENST00000612012.5:c.736-63_736-51del	ENSP00000482070.2:n.736-63_736-51del
ENST00000612460.5:c.688-63_688-51del	ENSP00000481037.1:n.688-63_688-51del
ENST00000614595.2:n.2125-63_2125-51del
ENST00000615658.5:n.1367-63_1367-51del
ENST00000616020.5:c.790-63_790-51del	ENSP00000483636.2:n.790-63_790-51del
ENST00000617701.5:c.*791-63_*791-51del	ENSP00000481645.1:n.*791-63_*791-51del
ENST00000651139.1:c.-6-63_-6-51del	ENSP00000498957.1:n.-6-63_-6-51del
ENST00000652354.1:c.460-63_460-51del	ENSP00000498734.1:n.460-63_460-51del
ENST00000652358.1:c.571-63_571-51del	ENSP00000498464.1:n.571-63_571-51del
ENST00000652390.1:c.697-63_697-51del	ENSP00000498858.1:n.697-63_697-51del
ENST00000652476.1:n.1444-63_1444-51del
ENST00000652644.1:c.391-63_391-51del	ENSP00000498496.1:n.391-63_391-51del
ENST00000652682.1:c.835-63_835-51del	ENSP00000498288.1:n.835-63_835-51del
ENST00000652685.1:n.1131-63_1131-51del
ENST00000369776.8:c.688-63_688-51del	ENSP00000358791.4:n.688-63_688-51del
ENST00000426231.5:c.775-63_775-51del
ENST00000475699.5:c.736-63_736-51del	ENSP00000419854.2:n.736-63_736-51del
ENST00000494912.5:n.1467-63_1467-51del
ENST00000498029.1:n.236-63_236-51del
ENST00000601016.5:c.778-63_778-51del	ENSP00000469981.1:n.778-63_778-51del
ENST00000612460.4:c.688-63_688-51del	ENSP00000481037.1:n.688-63_688-51del
ENST00000613002.4:c.646-63_646-51del	ENSP00000478154.1:n.646-63_646-51del
ENST00000615986.4:c.*506-63_*506-51del	ENSP00000480133.1:n.*506-63_*506-51del
NM_000116.4:c.778-63_778-51del	NP_000107.1:n.778-63_778-51del
NM_001303465.1:c.790-63_790-51del	NP_001290394.1:n.790-63_790-51del
NM_181311.3:c.688-63_688-51del	NP_851828.1:n.688-63_688-51del
NM_181312.3:c.736-63_736-51del	NP_851829.1:n.736-63_736-51del
NM_181313.3:c.646-63_646-51del	NP_851830.1:n.646-63_646-51del
NR_024048.2:n.1120-63_1120-51del
XM_006724836.1:c.832-63_832-51del	XP_006724899.1:n.832-63_832-51del
XM_006724837.1:c.817-63_817-51del	XP_006724900.1:n.817-63_817-51del
XM_006724839.1:c.700-63_700-51del	XP_006724902.1:n.700-63_700-51del
XM_006724841.2:c.571-63_571-51del	XP_006724904.1:n.571-63_571-51del
XM_006724842.2:c.481-63_481-51del	XP_006724905.1:n.481-63_481-51del
XM_011531189.1:c.619-63_619-51del	XP_011529491.1:n.619-63_619-51del
XM_011531190.1:c.571-63_571-51del	XP_011529492.1:n.571-63_571-51del
XM_011531191.1:c.502-63_502-51del	XP_011529493.1:n.502-63_502-51del
XM_011531192.1:c.499-63_499-51del	XP_011529494.1:n.499-63_499-51del
XR_938511.1:n.1126-63_1126-51del
XM_006724841.4:c.571-63_571-51del	XP_006724904.1:n.571-63_571-51del
XM_006724842.4:c.481-63_481-51del	XP_006724905.1:n.481-63_481-51del
XM_011531191.2:c.502-63_502-51del	XP_011529493.1:n.502-63_502-51del
XM_017029761.1:c.763-63_763-51del	XP_016885250.1:n.763-63_763-51del
XM_017029762.1:c.742-63_742-51del	XP_016885251.1:n.742-63_742-51del
XM_017029763.1:c.565-63_565-51del	XP_016885252.1:n.565-63_565-51del
XM_017029764.1:c.499-63_499-51del	XP_016885253.1:n.499-63_499-51del
XM_017029765.2:c.439-63_439-51del	XP_016885254.1:n.439-63_439-51del
XM_024452431.1:c.736-63_736-51del	XP_024308199.1:n.736-63_736-51del
NM_000116.5:c.778-63_778-51del MANE Select	NP_000107.1:n.778-63_778-51del
NM_001303465.2:c.790-63_790-51del	NP_001290394.1:n.790-63_790-51del
NM_181311.4:c.688-63_688-51del	NP_851828.1:n.688-63_688-51del
NM_181312.4:c.736-63_736-51del	NP_851829.1:n.736-63_736-51del
NM_181313.4:c.646-63_646-51del	NP_851830.1:n.646-63_646-51del
NR_024048.3:n.1099-63_1099-51del