Canonical Allele Identifier: CA2466677726
Gene: TAFAZZIN HGNC NCBI

Linked Data

dbSNP Id: rs2068598818

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420514_154420519del , CM000685.2:g.154420514_154420519del GRCh38
NC_000023.10:g.153648853_153648858del , CM000685.1:g.153648853_153648858del GRCh37
NC_000023.9:g.153302047_153302052del NCBI36
NG_009634.1:g.13977_13982del
NG_009634.2:g.13980_13985del

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.1510-144_1510-139del
ENST00000698317.1:n.2126-144_2126-139del
ENST00000698318.1:n.1909-144_1909-139del
ENST00000698319.1:n.1272-144_1272-139del
ENST00000698320.1:n.1160-144_1160-139del
ENST00000470127.2:n.1173-144_1173-139del
ENST00000475699.6:c.664-144_664-139del ENSP00000419854.3:n.664-144_664-139del
ENST00000483674.3:n.582-144_582-139del
ENST00000601016.6:c.700-144_700-139del MANE Select ENSP00000469981.1:n.700-144_700-139del
ENST00000612012.5:c.658-144_658-139del ENSP00000482070.2:n.658-144_658-139del
ENST00000612460.5:c.610-144_610-139del ENSP00000481037.1:n.610-144_610-139del
ENST00000614595.2:n.2047-144_2047-139del
ENST00000615658.5:n.1289-144_1289-139del
ENST00000616020.5:c.712-144_712-139del ENSP00000483636.2:n.712-144_712-139del
ENST00000617701.5:c.*713-144_*713-139del ENSP00000481645.1:n.*713-144_*713-139del
ENST00000651139.1:c.-85+55_-85+60del ENSP00000498957.1:n.-85+55_-85+60del
ENST00000652354.1:c.382-144_382-139del ENSP00000498734.1:n.382-144_382-139del
ENST00000652358.1:c.493-144_493-139del ENSP00000498464.1:n.493-144_493-139del
ENST00000652390.1:c.619-144_619-139del ENSP00000498858.1:n.619-144_619-139del
ENST00000652476.1:n.1366-144_1366-139del
ENST00000652644.1:c.313-144_313-139del ENSP00000498496.1:n.313-144_313-139del
ENST00000652682.1:c.757-144_757-139del ENSP00000498288.1:n.757-144_757-139del
ENST00000652685.1:n.1053-144_1053-139del
ENST00000369776.8:c.610-144_610-139del ENSP00000358791.4:n.610-144_610-139del
ENST00000426231.5:c.697-144_697-139del
ENST00000475699.5:c.658-144_658-139del ENSP00000419854.2:n.658-144_658-139del
ENST00000494912.5:n.1389-144_1389-139del
ENST00000498029.1:n.158-144_158-139del
ENST00000601016.5:c.700-144_700-139del ENSP00000469981.1:n.700-144_700-139del
ENST00000612460.4:c.610-144_610-139del ENSP00000481037.1:n.610-144_610-139del
ENST00000613002.4:c.568-144_568-139del ENSP00000478154.1:n.568-144_568-139del
ENST00000615986.4:c.*428-144_*428-139del ENSP00000480133.1:n.*428-144_*428-139del
NM_000116.4:c.700-144_700-139del NP_000107.1:n.700-144_700-139del
NM_001303465.1:c.712-144_712-139del NP_001290394.1:n.712-144_712-139del
NM_181311.3:c.610-144_610-139del NP_851828.1:n.610-144_610-139del
NM_181312.3:c.658-144_658-139del NP_851829.1:n.658-144_658-139del
NM_181313.3:c.568-144_568-139del NP_851830.1:n.568-144_568-139del
NR_024048.2:n.1042-144_1042-139del
XM_006724836.1:c.754-144_754-139del XP_006724899.1:n.754-144_754-139del
XM_006724837.1:c.739-144_739-139del XP_006724900.1:n.739-144_739-139del
XM_006724839.1:c.622-144_622-139del XP_006724902.1:n.622-144_622-139del
XM_006724841.2:c.493-144_493-139del XP_006724904.1:n.493-144_493-139del
XM_006724842.2:c.403-144_403-139del XP_006724905.1:n.403-144_403-139del
XM_011531189.1:c.541-144_541-139del XP_011529491.1:n.541-144_541-139del
XM_011531190.1:c.493-144_493-139del XP_011529492.1:n.493-144_493-139del
XM_011531191.1:c.424-144_424-139del XP_011529493.1:n.424-144_424-139del
XM_011531192.1:c.421-144_421-139del XP_011529494.1:n.421-144_421-139del
XR_938511.1:n.1048-144_1048-139del
XM_006724841.4:c.493-144_493-139del XP_006724904.1:n.493-144_493-139del
XM_006724842.4:c.403-144_403-139del XP_006724905.1:n.403-144_403-139del
XM_011531191.2:c.424-144_424-139del XP_011529493.1:n.424-144_424-139del
XM_017029761.1:c.685-144_685-139del XP_016885250.1:n.685-144_685-139del
XM_017029762.1:c.664-144_664-139del XP_016885251.1:n.664-144_664-139del
XM_017029763.1:c.487-144_487-139del XP_016885252.1:n.487-144_487-139del
XM_017029764.1:c.421-144_421-139del XP_016885253.1:n.421-144_421-139del
XM_017029765.2:c.361-144_361-139del XP_016885254.1:n.361-144_361-139del
XM_024452431.1:c.658-144_658-139del XP_024308199.1:n.658-144_658-139del
NM_000116.5:c.700-144_700-139del MANE Select NP_000107.1:n.700-144_700-139del
NM_001303465.2:c.712-144_712-139del NP_001290394.1:n.712-144_712-139del
NM_181311.4:c.610-144_610-139del NP_851828.1:n.610-144_610-139del
NM_181312.4:c.658-144_658-139del NP_851829.1:n.658-144_658-139del
NM_181313.4:c.568-144_568-139del NP_851830.1:n.568-144_568-139del
NR_024048.3:n.1021-144_1021-139del