Canonical Allele Identifier: CA2501617265
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130139786_130139789del , CM000685.2:g.130139786_130139789del GRCh38
NC_000023.10:g.129273761_129273764del , CM000685.1:g.129273761_129273764del GRCh37
NC_000023.9:g.129101442_129101445del NCBI36
NG_013217.1:g.31047_31050del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.858+8_858+11del (AIFM1) MANE Select ENSP00000287295.3:n.858+8_858+11del
ENST00000319908.8:c.855+8_855+11del (AIFM1) ENSP00000315122.4:n.855+8_855+11del
ENST00000416073.7:c.852+8_852+11del (AIFM1) ENSP00000402535.3:n.852+8_852+11del
ENST00000533719.2:n.650+8_650+11del (AIFM1)
ENST00000535724.6:c.858+8_858+11del (AIFM1) ENSP00000446113.2:n.858+8_858+11del
ENST00000674546.1:c.858+8_858+11del (AIFM1) ENSP00000501950.1:n.858+8_858+11del
ENST00000674555.1:c.*593+8_*593+11del (AIFM1) ENSP00000502183.1:n.*593+8_*593+11del
ENST00000674722.1:c.*26+8_*26+11del (AIFM1) ENSP00000501693.1:n.*26+8_*26+11del
ENST00000674957.1:c.559+8_559+11del (AIFM1)
ENST00000674997.1:c.715+8_715+11del (AIFM1) ENSP00000502124.1:n.715+8_715+11del
ENST00000675037.1:c.858+8_858+11del (AIFM1) ENSP00000501724.1:n.858+8_858+11del
ENST00000675050.1:c.846+8_846+11del (AIFM1) ENSP00000502606.1:n.846+8_846+11del
ENST00000675092.1:c.858+8_858+11del (AIFM1) ENSP00000501772.1:n.858+8_858+11del
ENST00000675111.1:n.783+8_783+11del (AIFM1)
ENST00000675240.1:c.858+8_858+11del (AIFM1) ENSP00000501907.1:n.858+8_858+11del
ENST00000675427.1:c.858+8_858+11del (AIFM1) ENSP00000501880.1:n.858+8_858+11del
ENST00000675774.1:c.*642+8_*642+11del (AIFM1) ENSP00000502690.1:n.*642+8_*642+11del
ENST00000675857.1:c.852+8_852+11del (AIFM1) ENSP00000502721.1:n.852+8_852+11del
ENST00000676048.1:n.3980+8_3980+11del (AIFM1)
ENST00000676144.1:c.633+8_633+11del (AIFM1)
ENST00000676229.1:c.846+8_846+11del (AIFM1) ENSP00000502184.1:n.846+8_846+11del
ENST00000676328.1:c.855+8_855+11del (AIFM1) ENSP00000502068.1:n.855+8_855+11del
ENST00000676436.1:c.852+8_852+11del (AIFM1) ENSP00000502669.1:n.852+8_852+11del
ENST00000287295.7:c.858+8_858+11del (AIFM1) ENSP00000287295.3:n.858+8_858+11del
ENST00000319908.7:c.846+8_846+11del (AIFM1) ENSP00000315122.3:n.846+8_846+11del
ENST00000346424.6:c.107-2602_107-2599del (AIFM1) ENSP00000316320.3:n.107-2602_107-2599del
ENST00000416073.6:c.858+8_858+11del (AIFM1) ENSP00000402535.2:n.858+8_858+11del
ENST00000527892.5:c.*583+8_*583+11del (AIFM1) ENSP00000435955.1:n.*583+8_*583+11del
ENST00000533719.1:n.561+8_561+11del (AIFM1)
ENST00000535724.5:c.858+8_858+11del (AIFM1) ENSP00000446113.2:n.858+8_858+11del
NM_001130847.3:c.858+8_858+11del (AIFM1) NP_001124319.1:n.858+8_858+11del
NM_004208.3:c.858+8_858+11del (AIFM1) NP_004199.1:n.858+8_858+11del
NM_145812.2:c.846+8_846+11del (AIFM1) NP_665811.1:n.846+8_846+11del
NM_145813.2:c.107-2602_107-2599del (AIFM1) NP_665812.1:n.107-2602_107-2599del
NR_132647.1:n.946+8_946+11del (AIFM1)
XM_017029963.2:c.30+22401_30+22404del (RAB33A) XP_016885452.1:n.30+22401_30+22404del
NM_004208.4:c.858+8_858+11del (AIFM1) MANE Select NP_004199.1:n.858+8_858+11del
NM_001130847.4:c.858+8_858+11del (AIFM1) NP_001124319.1:n.858+8_858+11del
NM_145812.3:c.846+8_846+11del (AIFM1) NP_665811.1:n.846+8_846+11del
NR_132647.2:n.900+8_900+11del (AIFM1)