Canonical Allele Identifier: CA915952004

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 807868
• ClinVar RCV Id: RCV000996073
• dbSNP Id: rs1603382251

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420732_154420736dup , CM000685.2:g.154420732_154420736dup	GRCh38
NC_000023.10:g.153649071_153649075dup , CM000685.1:g.153649071_153649075dup	GRCh37
NC_000023.9:g.153302265_153302269dup	NCBI36
NG_009634.1:g.14195_14199dup
NG_009634.2:g.14198_14202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1584_1587+1dup
ENST00000698317.1:n.2200_2203+1dup
ENST00000698318.1:n.1983_1986+1dup
ENST00000698319.1:n.1346_1349+1dup
ENST00000698320.1:n.1234_1238dup
ENST00000470127.2:n.1247_1250+1dup
ENST00000475699.6:c.738_741+1dup
ENST00000483674.3:n.656_659+1dup
ENST00000601016.6:c.774_777+1dup
ENST00000612012.5:c.732_735+1dup
ENST00000612460.5:c.684_687+1dup
ENST00000614595.2:n.2121_2124+1dup
ENST00000615658.5:n.1363_1366+1dup
ENST00000616020.5:c.786_789+1dup
ENST00000617701.5:c.*787_*790+1dup
ENST00000651139.1:c.-10_-7+1dup
ENST00000652354.1:c.456_459+1dup
ENST00000652358.1:c.567_570+1dup
ENST00000652390.1:c.693_696+1dup
ENST00000652476.1:n.1440_1443+1dup
ENST00000652644.1:c.387_390+1dup
ENST00000652682.1:c.831_834+1dup
ENST00000652685.1:n.1127_1130+1dup
ENST00000369776.8:c.684_687+1dup
ENST00000426231.5:c.771_774+1dup
ENST00000475699.5:c.732_735+1dup
ENST00000494912.5:n.1463_1466+1dup
ENST00000498029.1:n.232_235+1dup
ENST00000601016.5:c.774_777+1dup
ENST00000612460.4:c.684_687+1dup
ENST00000613002.4:c.642_645+1dup
ENST00000615986.4:c.*502_*505+1dup
NM_000116.4:c.774_777+1dup
NM_001303465.1:c.786_789+1dup
NM_181311.3:c.684_687+1dup
NM_181312.3:c.732_735+1dup
NM_181313.3:c.642_645+1dup
NR_024048.2:n.1116_1119+1dup
XM_006724836.1:c.828_831+1dup
XM_006724837.1:c.813_816+1dup
XM_006724839.1:c.696_699+1dup
XM_006724841.2:c.567_570+1dup
XM_006724842.2:c.477_480+1dup
XM_011531189.1:c.615_618+1dup
XM_011531190.1:c.567_570+1dup
XM_011531191.1:c.498_501+1dup
XM_011531192.1:c.495_498+1dup
XR_938511.1:n.1122_1125+1dup
XM_006724841.4:c.567_570+1dup
XM_006724842.4:c.477_480+1dup
XM_011531191.2:c.498_501+1dup
XM_017029761.1:c.759_762+1dup
XM_017029762.1:c.738_741+1dup
XM_017029763.1:c.561_564+1dup
XM_017029764.1:c.495_498+1dup
XM_017029765.2:c.435_438+1dup
XM_024452431.1:c.732_735+1dup
NM_000116.5:c.774_777+1dup
NM_001303465.2:c.786_789+1dup
NM_181311.4:c.684_687+1dup
NM_181312.4:c.732_735+1dup
NM_181313.4:c.642_645+1dup
NR_024048.3:n.1095_1098+1dup