Canonical Allele Identifier: CA2695123669

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154419891-TAGGCCTGCCTCTCGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419895_154419909del , CM000685.2:g.154419895_154419909del	GRCh38
NC_000023.10:g.153648234_153648248del , CM000685.1:g.153648234_153648248del	GRCh37
NC_000023.9:g.153301428_153301442del	NCBI36
NG_009634.1:g.13358_13372del
NG_009634.2:g.13361_13375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1257_1271del
ENST00000698317.1:n.1873_1887del
ENST00000698318.1:n.1656_1670del
ENST00000698319.1:n.1019_1033del
ENST00000698320.1:n.907_921del
ENST00000470127.2:n.920_934del
ENST00000475699.6:c.548-137_548-123del	ENSP00000419854.3:n.548-137_548-123del
ENST00000483674.3:n.466-137_466-123del
ENST00000601016.6:c.584-137_584-123del MANE Select	ENSP00000469981.1:n.584-137_584-123del
ENST00000612012.5:c.542-137_542-123del	ENSP00000482070.2:n.542-137_542-123del
ENST00000612460.5:c.494-137_494-123del	ENSP00000481037.1:n.494-137_494-123del
ENST00000614595.2:n.1931-137_1931-123del
ENST00000615658.5:n.1036_1050del
ENST00000616020.5:c.596-137_596-123del	ENSP00000483636.2:n.596-137_596-123del
ENST00000617701.5:c.*460_*474del	ENSP00000481645.1:n.*460_*474del
ENST00000652354.1:c.266-137_266-123del	ENSP00000498734.1:n.266-137_266-123del
ENST00000652358.1:c.377-137_377-123del	ENSP00000498464.1:n.377-137_377-123del
ENST00000652390.1:c.503-137_503-123del	ENSP00000498858.1:n.503-137_503-123del
ENST00000652476.1:n.1113_1127del
ENST00000652644.1:c.197-137_197-123del	ENSP00000498496.1:n.197-137_197-123del
ENST00000652682.1:c.641-137_641-123del	ENSP00000498288.1:n.641-137_641-123del
ENST00000652685.1:n.800_814del
ENST00000369776.8:c.377-137_377-123del	ENSP00000358791.4:n.377-137_377-123del
ENST00000426231.5:c.581-137_581-123del
ENST00000439735.2:c.491-137_491-123del	ENSP00000398193.1:n.491-137_491-123del
ENST00000470127.1:n.163-137_163-123del
ENST00000475699.5:c.542-137_542-123del	ENSP00000419854.2:n.542-137_542-123del
ENST00000476679.5:n.726_740del
ENST00000494912.5:n.1273-137_1273-123del
ENST00000601016.5:c.584-137_584-123del	ENSP00000469981.1:n.584-137_584-123del
ENST00000612012.4:c.548-137_548-123del	ENSP00000482070.1:n.548-137_548-123del
ENST00000612460.4:c.494-137_494-123del	ENSP00000481037.1:n.494-137_494-123del
ENST00000613002.4:c.452-137_452-123del	ENSP00000478154.1:n.452-137_452-123del
ENST00000613634.4:n.962_976del
ENST00000615658.4:n.1136_1150del
ENST00000615986.4:c.*312-137_*312-123del	ENSP00000480133.1:n.*312-137_*312-123del
ENST00000620808.4:c.*170-137_*170-123del	ENSP00000479311.1:n.*170-137_*170-123del
NM_000116.4:c.584-137_584-123del	NP_000107.1:n.584-137_584-123del
NM_001303465.1:c.596-137_596-123del	NP_001290394.1:n.596-137_596-123del
NM_181311.3:c.494-137_494-123del	NP_851828.1:n.494-137_494-123del
NM_181312.3:c.542-137_542-123del	NP_851829.1:n.542-137_542-123del
NM_181313.3:c.452-137_452-123del	NP_851830.1:n.452-137_452-123del
NR_024048.2:n.926-137_926-123del
XM_006724836.1:c.638-137_638-123del	XP_006724899.1:n.638-137_638-123del
XM_006724837.1:c.506-137_506-123del	XP_006724900.1:n.506-137_506-123del
XM_006724839.1:c.506-137_506-123del	XP_006724902.1:n.506-137_506-123del
XM_006724841.2:c.377-137_377-123del	XP_006724904.1:n.377-137_377-123del
XM_006724842.2:c.287-137_287-123del	XP_006724905.1:n.287-137_287-123del
XM_011531189.1:c.425-137_425-123del	XP_011529491.1:n.425-137_425-123del
XM_011531190.1:c.377-137_377-123del	XP_011529492.1:n.377-137_377-123del
XM_011531191.1:c.308-137_308-123del	XP_011529493.1:n.308-137_308-123del
XM_011531192.1:c.305-137_305-123del	XP_011529494.1:n.305-137_305-123del
XR_938511.1:n.932-137_932-123del
XM_006724841.4:c.377-137_377-123del	XP_006724904.1:n.377-137_377-123del
XM_006724842.4:c.287-137_287-123del	XP_006724905.1:n.287-137_287-123del
XM_011531191.2:c.308-137_308-123del	XP_011529493.1:n.308-137_308-123del
XM_017029761.1:c.452-137_452-123del	XP_016885250.1:n.452-137_452-123del
XM_017029762.1:c.548-137_548-123del	XP_016885251.1:n.548-137_548-123del
XM_017029763.1:c.371-137_371-123del	XP_016885252.1:n.371-137_371-123del
XM_017029764.1:c.305-137_305-123del	XP_016885253.1:n.305-137_305-123del
XM_017029765.2:c.245-137_245-123del	XP_016885254.1:n.245-137_245-123del
XM_024452431.1:c.425-137_425-123del	XP_024308199.1:n.425-137_425-123del
NM_000116.5:c.584-137_584-123del MANE Select	NP_000107.1:n.584-137_584-123del
NM_001303465.2:c.596-137_596-123del	NP_001290394.1:n.596-137_596-123del
NM_181311.4:c.494-137_494-123del	NP_851828.1:n.494-137_494-123del
NM_181312.4:c.542-137_542-123del	NP_851829.1:n.542-137_542-123del
NM_181313.4:c.452-137_452-123del	NP_851830.1:n.452-137_452-123del
NR_024048.3:n.905-137_905-123del