Canonical Allele Identifier: CA2580612484
Gene: AIFM1 HGNC NCBI
RAB33A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.130136121_130136123del , CM000685.2:g.130136121_130136123del GRCh38
NC_000023.10:g.129270096_129270098del , CM000685.1:g.129270096_129270098del GRCh37
NC_000023.9:g.129097777_129097779del NCBI36
NG_013217.1:g.34714_34716del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287295.8:c.1230_1232del (AIFM1) MANE Select ENSP00000287295.3:p.Gly411del
ENST00000319908.8:c.1227_1229del (AIFM1) ENSP00000315122.4:p.Gly410del
ENST00000416073.7:c.1224_1226del (AIFM1) ENSP00000402535.3:p.Gly409del
ENST00000533719.2:n.1022_1024del (AIFM1)
ENST00000535724.6:c.*458_*460del (AIFM1) ENSP00000446113.2:n.*458_*460del
ENST00000674546.1:c.1230_1232del (AIFM1) ENSP00000501950.1:p.Gly411del
ENST00000674555.1:c.*965_*967del (AIFM1) ENSP00000502183.1:n.*965_*967del
ENST00000674601.1:c.152+523_152+525del (AIFM1)
ENST00000674722.1:c.*398_*400del (AIFM1) ENSP00000501693.1:n.*398_*400del
ENST00000674957.1:c.927_929del (AIFM1)
ENST00000674997.1:c.1087_1089del (AIFM1) ENSP00000502124.1:n.1087_1089del
ENST00000675015.1:n.1569_1571del (AIFM1)
ENST00000675037.1:c.1230_1232del (AIFM1) ENSP00000501724.1:p.Gly411del
ENST00000675050.1:c.1218_1220del (AIFM1) ENSP00000502606.1:p.Gly407del
ENST00000675092.1:c.1230_1232del (AIFM1) ENSP00000501772.1:p.Gly411del
ENST00000675111.1:n.1155_1157del (AIFM1)
ENST00000675240.1:c.1230_1232del (AIFM1) ENSP00000501907.1:p.Gly411del
ENST00000675427.1:c.1230_1232del (AIFM1) ENSP00000501880.1:p.Gly411del
ENST00000675857.1:c.1224_1226del (AIFM1) ENSP00000502721.1:p.Gly409del
ENST00000676048.1:n.4352_4354del (AIFM1)
ENST00000676229.1:c.1218_1220del (AIFM1) ENSP00000502184.1:p.Gly407del
ENST00000676328.1:c.1227_1229del (AIFM1) ENSP00000502068.1:p.Gly410del
ENST00000676436.1:c.1218_1220del (AIFM1) ENSP00000502669.1:p.Gly407del
ENST00000287295.7:c.1230_1232del (AIFM1) ENSP00000287295.3:p.Gly411del
ENST00000319908.7:c.1218_1220del (AIFM1) ENSP00000315122.3:p.Gly407del
ENST00000346424.6:c.369_371del (AIFM1) ENSP00000316320.3:p.Gly124del
ENST00000416073.6:c.*458_*460del (AIFM1) ENSP00000402535.2:n.*458_*460del
ENST00000460436.6:c.213_215del (AIFM1) ENSP00000431222.1:p.Gly72del
ENST00000527892.5:c.*1158_*1160del (AIFM1) ENSP00000435955.1:n.*1158_*1160del
ENST00000535724.5:c.*458_*460del (AIFM1) ENSP00000446113.2:n.*458_*460del
NM_001130846.2:c.174_176del (AIFM1) NP_001124318.1:p.Gly59del
NM_001130846.3:c.213_215del (AIFM1) NP_001124318.2:p.Gly72del
NM_001130847.3:c.*458_*460del (AIFM1) NP_001124319.1:n.*458_*460del
NM_004208.3:c.1230_1232del (AIFM1) NP_004199.1:p.Gly411del
NM_145812.2:c.1218_1220del (AIFM1) NP_665811.1:p.Gly407del
NM_145813.2:c.369_371del (AIFM1) NP_665812.1:p.Gly124del
NR_132647.1:n.1521_1523del (AIFM1)
XM_017029963.2:c.30+18736_30+18738del (RAB33A) XP_016885452.1:n.30+18736_30+18738del
NM_004208.4:c.1230_1232del (AIFM1) MANE Select NP_004199.1:p.Gly411del
NM_001130846.4:c.213_215del (AIFM1) NP_001124318.2:p.Gly72del
NM_001130847.4:c.*458_*460del (AIFM1) NP_001124319.1:n.*458_*460del
NM_145812.3:c.1218_1220del (AIFM1) NP_665811.1:p.Gly407del
NR_132647.2:n.1475_1477del (AIFM1)