Canonical Allele Identifier: CA2677994919

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616237-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616242dup , CM000668.2:g.31616242dup	GRCh38
NC_000006.11:g.31584019dup , CM000668.1:g.31584019dup	GRCh37
NC_000006.10:g.31691998dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.196+97dup MANE Select	ENSP00000365227.3:n.196+97dup
ENST00000337917.11:c.238+97dup	ENSP00000338776.7:n.238+97dup
ENST00000376049.4:c.34+97dup	ENSP00000365217.4:n.34+97dup
ENST00000376059.7:c.196+97dup	ENSP00000365227.3:n.196+97dup
ENST00000466820.1:n.710dup
ENST00000497362.5:n.712dup
NM_001623.3:c.196+97dup	NP_001614.3:n.196+97dup
NM_004847.3:c.131dup	NP_004838.1:p.Pro46ThrfsTer?
NM_032955.1:c.34+97dup	NP_116573.1:n.34+97dup
XM_005248870.3:c.293dup	XP_005248927.1:p.Pro100ThrfsTer?
XM_005248871.1:c.259+97dup	XP_005248928.1:n.259+97dup
NM_001318970.1:c.34+97dup	NP_001305899.1:n.34+97dup
NM_001623.4:c.196+97dup	NP_001614.3:n.196+97dup
NM_032955.2:c.34+97dup	NP_116573.1:n.34+97dup
XM_005248870.4:c.293dup	XP_005248927.1:p.Pro100ThrfsTer?
XM_017010332.1:c.131dup	XP_016865821.1:p.Pro46ThrfsTer?
NM_001623.5:c.196+97dup MANE Select	NP_001614.3:n.196+97dup
NM_001318970.2:c.34+97dup	NP_001305899.1:n.34+97dup
NM_032955.3:c.34+97dup	NP_116573.1:n.34+97dup