Canonical Allele Identifier: CA2694685474

Gene: AIFM1 RAB33A

Linked Data

• gnomAD v4: X-130138594-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130138597del , CM000685.2:g.130138597del	GRCh38
NC_000023.10:g.129272572del , CM000685.1:g.129272572del	GRCh37
NC_000023.9:g.129100253del	NCBI36
NG_013217.1:g.32239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287295.8:c.965del (AIFM1) MANE Select	ENSP00000287295.3:p.Lys322ArgfsTer9
ENST00000319908.8:c.962del (AIFM1)	ENSP00000315122.4:p.Lys321ArgfsTer9
ENST00000416073.7:c.959del (AIFM1)	ENSP00000402535.3:p.Lys320ArgfsTer9
ENST00000533719.2:n.757del (AIFM1)
ENST00000535724.6:c.965del (AIFM1)	ENSP00000446113.2:p.Lys322ArgfsTer26
ENST00000674546.1:c.965del (AIFM1)	ENSP00000501950.1:p.Lys322ArgfsTer9
ENST00000674555.1:c.*700del (AIFM1)	ENSP00000502183.1:n.*700del
ENST00000674722.1:c.*133del (AIFM1)	ENSP00000501693.1:n.*133del
ENST00000674957.1:c.666del (AIFM1)
ENST00000674997.1:c.822del (AIFM1)	ENSP00000502124.1:n.822del
ENST00000675037.1:c.965del (AIFM1)	ENSP00000501724.1:p.Lys322ArgfsTer9
ENST00000675050.1:c.953del (AIFM1)	ENSP00000502606.1:p.Lys318ArgfsTer9
ENST00000675092.1:c.965del (AIFM1)	ENSP00000501772.1:p.Lys322ArgfsTer9
ENST00000675111.1:n.890del (AIFM1)
ENST00000675240.1:c.965del (AIFM1)	ENSP00000501907.1:p.Lys322ArgfsTer9
ENST00000675427.1:c.965del (AIFM1)	ENSP00000501880.1:p.Lys322ArgfsTer9
ENST00000675774.1:c.*749del (AIFM1)	ENSP00000502690.1:n.*749del
ENST00000675857.1:c.959del (AIFM1)	ENSP00000502721.1:p.Lys320ArgfsTer9
ENST00000676048.1:n.4087del (AIFM1)
ENST00000676144.1:c.740del (AIFM1)
ENST00000676229.1:c.953del (AIFM1)	ENSP00000502184.1:p.Lys318ArgfsTer9
ENST00000676328.1:c.962del (AIFM1)	ENSP00000502068.1:p.Lys321ArgfsTer9
ENST00000676436.1:c.959del (AIFM1)	ENSP00000502669.1:p.Lys320ArgfsTer7
ENST00000287295.7:c.965del (AIFM1)	ENSP00000287295.3:p.Lys322ArgfsTer9
ENST00000319908.7:c.953del (AIFM1)	ENSP00000315122.3:p.Lys318ArgfsTer9
ENST00000346424.6:c.107-1410del (AIFM1)	ENSP00000316320.3:n.107-1410del
ENST00000416073.6:c.965del (AIFM1)	ENSP00000402535.2:p.Lys322ArgfsTer26
ENST00000527892.5:c.*690del (AIFM1)	ENSP00000435955.1:n.*690del
ENST00000533719.1:n.668del (AIFM1)
ENST00000535724.5:c.965del (AIFM1)	ENSP00000446113.2:p.Lys322ArgfsTer26
NM_001130847.3:c.965del (AIFM1)	NP_001124319.1:p.Lys322ArgfsTer26
NM_004208.3:c.965del (AIFM1)	NP_004199.1:p.Lys322ArgfsTer9
NM_145812.2:c.953del (AIFM1)	NP_665811.1:p.Lys318ArgfsTer9
NM_145813.2:c.107-1410del (AIFM1)	NP_665812.1:n.107-1410del
NR_132647.1:n.1053del (AIFM1)
XM_017029963.2:c.30+21212del (RAB33A)	XP_016885452.1:n.30+21212del
NM_004208.4:c.965del (AIFM1) MANE Select	NP_004199.1:p.Lys322ArgfsTer9
NM_001130847.4:c.965del (AIFM1)	NP_001124319.1:p.Lys322ArgfsTer26
NM_145812.3:c.953del (AIFM1)	NP_665811.1:p.Lys318ArgfsTer9
NR_132647.2:n.1007del (AIFM1)