Canonical Allele Identifier: CA2579700878
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139815del , CM000685.2:g.130139815del GRCh38
NC_000023.10:g.129273790del , CM000685.1:g.129273790del GRCh37
NC_000023.9:g.129101471del NCBI36
NG_013217.1:g.31019del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.838del (AIFM1) MANE Select ENSP00000287295.3:p.Arg280GlufsTer?
ENST00000319908.8:c.835del (AIFM1) ENSP00000315122.4:p.Arg279GlufsTer?
ENST00000416073.7:c.832del (AIFM1) ENSP00000402535.3:p.Arg278GlufsTer?
ENST00000533719.2:n.630del (AIFM1)
ENST00000535724.6:c.838del (AIFM1) ENSP00000446113.2:p.Arg280GlufsTer?
ENST00000674546.1:c.838del (AIFM1) ENSP00000501950.1:p.Arg280GlufsTer?
ENST00000674555.1:c.*573del (AIFM1) ENSP00000502183.1:n.*573del
ENST00000674722.1:c.*6del (AIFM1) ENSP00000501693.1:n.*6del
ENST00000674957.1:c.539del (AIFM1)
ENST00000674997.1:c.695del (AIFM1) ENSP00000502124.1:n.695del
ENST00000675037.1:c.838del (AIFM1) ENSP00000501724.1:p.Arg280GlufsTer?
ENST00000675050.1:c.826del (AIFM1) ENSP00000502606.1:p.Arg276GlufsTer?
ENST00000675092.1:c.838del (AIFM1) ENSP00000501772.1:p.Arg280GlufsTer?
ENST00000675111.1:n.763del (AIFM1)
ENST00000675240.1:c.838del (AIFM1) ENSP00000501907.1:p.Arg280GlufsTer?
ENST00000675427.1:c.838del (AIFM1) ENSP00000501880.1:p.Arg280GlufsTer?
ENST00000675774.1:c.*622del (AIFM1) ENSP00000502690.1:n.*622del
ENST00000675857.1:c.832del (AIFM1) ENSP00000502721.1:p.Arg278GlufsTer?
ENST00000676048.1:n.3960del (AIFM1)
ENST00000676144.1:c.613del (AIFM1)
ENST00000676229.1:c.826del (AIFM1) ENSP00000502184.1:p.Arg276GlufsTer?
ENST00000676328.1:c.835del (AIFM1) ENSP00000502068.1:p.Arg279GlufsTer?
ENST00000676436.1:c.832del (AIFM1) ENSP00000502669.1:p.Arg278GlufsTer?
ENST00000287295.7:c.838del (AIFM1) ENSP00000287295.3:p.Arg280GlufsTer?
ENST00000319908.7:c.826del (AIFM1) ENSP00000315122.3:p.Arg276GlufsTer?
ENST00000346424.6:c.107-2630del (AIFM1) ENSP00000316320.3:n.107-2630del
ENST00000416073.6:c.838del (AIFM1) ENSP00000402535.2:p.Arg280GlufsTer?
ENST00000527892.5:c.*563del (AIFM1) ENSP00000435955.1:n.*563del
ENST00000533719.1:n.541del (AIFM1)
ENST00000535724.5:c.838del (AIFM1) ENSP00000446113.2:p.Arg280GlufsTer?
NM_001130847.3:c.838del (AIFM1) NP_001124319.1:p.Arg280GlufsTer?
NM_004208.3:c.838del (AIFM1) NP_004199.1:p.Arg280GlufsTer?
NM_145812.2:c.826del (AIFM1) NP_665811.1:p.Arg276GlufsTer?
NM_145813.2:c.107-2630del (AIFM1) NP_665812.1:n.107-2630del
NR_132647.1:n.926del (AIFM1)
XM_017029963.2:c.30+22430del (RAB33A) XP_016885452.1:n.30+22430del
NM_004208.4:c.838del (AIFM1) MANE Select NP_004199.1:p.Arg280GlufsTer?
NM_001130847.4:c.838del (AIFM1) NP_001124319.1:p.Arg280GlufsTer?
NM_145812.3:c.826del (AIFM1) NP_665811.1:p.Arg276GlufsTer?
NR_132647.2:n.880del (AIFM1)