Canonical Allele Identifier: CA1619230477

Gene: AIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616293_31616297delinsGGAGA , CM000668.2:g.31616293_31616297delinsGGAGA	GRCh38
NC_000006.11:g.31584070_31584074delinsGGAGA , CM000668.1:g.31584070_31584074delinsGGAGA	GRCh37
NC_000006.10:g.31692049_31692053delinsGGAGA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-51_197-47delinsGGAGA MANE Select	ENSP00000365227.3:n.197-51_197-47delinsGGAGA
ENST00000337917.11:c.239-51_239-47delinsGGAGA	ENSP00000338776.7:n.239-51_239-47delinsGGAGA
ENST00000376049.4:c.35-51_35-47delinsGGAGA	ENSP00000365217.4:n.35-51_35-47delinsGGAGA
ENST00000376059.7:c.197-51_197-47delinsGGAGA	ENSP00000365227.3:n.197-51_197-47delinsGGAGA
ENST00000466820.1:n.761_765delinsGGAGA
ENST00000497362.5:n.763_767delinsGGAGA
NM_001623.3:c.197-51_197-47delinsGGAGA	NP_001614.3:n.197-51_197-47delinsGGAGA
NM_004847.3:c.182_186delinsGGAGA	NP_004838.1:p.Arg61=
NM_032955.1:c.35-51_35-47delinsGGAGA	NP_116573.1:n.35-51_35-47delinsGGAGA
XM_005248870.3:c.344_348delinsGGAGA	XP_005248927.1:p.Arg115=
XM_005248871.1:c.260-51_260-47delinsGGAGA	XP_005248928.1:n.260-51_260-47delinsGGAGA
NM_001318970.1:c.35-51_35-47delinsGGAGA	NP_001305899.1:n.35-51_35-47delinsGGAGA
NM_001623.4:c.197-51_197-47delinsGGAGA	NP_001614.3:n.197-51_197-47delinsGGAGA
NM_032955.2:c.35-51_35-47delinsGGAGA	NP_116573.1:n.35-51_35-47delinsGGAGA
XM_005248870.4:c.344_348delinsGGAGA	XP_005248927.1:p.Arg115=
XM_017010332.1:c.182_186delinsGGAGA	XP_016865821.1:p.Arg61=
NM_001623.5:c.197-51_197-47delinsGGAGA MANE Select	NP_001614.3:n.197-51_197-47delinsGGAGA
NM_001318970.2:c.35-51_35-47delinsGGAGA	NP_001305899.1:n.35-51_35-47delinsGGAGA
NM_032955.3:c.35-51_35-47delinsGGAGA	NP_116573.1:n.35-51_35-47delinsGGAGA