Canonical Allele Identifier: CA2677994927

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616242-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616245del , CM000668.2:g.31616245del	GRCh38
NC_000006.11:g.31584022del , CM000668.1:g.31584022del	GRCh37
NC_000006.10:g.31692001del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-99del MANE Select	ENSP00000365227.3:n.197-99del
ENST00000337917.11:c.239-99del	ENSP00000338776.7:n.239-99del
ENST00000376049.4:c.35-99del	ENSP00000365217.4:n.35-99del
ENST00000376059.7:c.197-99del	ENSP00000365227.3:n.197-99del
ENST00000466820.1:n.713del
ENST00000497362.5:n.715del
NM_001623.3:c.197-99del	NP_001614.3:n.197-99del
NM_004847.3:c.134del	NP_004838.1:p.Pro45HisfsTer?
NM_032955.1:c.35-99del	NP_116573.1:n.35-99del
XM_005248870.3:c.296del	XP_005248927.1:p.Pro99HisfsTer?
XM_005248871.1:c.260-99del	XP_005248928.1:n.260-99del
NM_001318970.1:c.35-99del	NP_001305899.1:n.35-99del
NM_001623.4:c.197-99del	NP_001614.3:n.197-99del
NM_032955.2:c.35-99del	NP_116573.1:n.35-99del
XM_005248870.4:c.296del	XP_005248927.1:p.Pro99HisfsTer?
XM_017010332.1:c.134del	XP_016865821.1:p.Pro45HisfsTer?
NM_001623.5:c.197-99del MANE Select	NP_001614.3:n.197-99del
NM_001318970.2:c.35-99del	NP_001305899.1:n.35-99del
NM_032955.3:c.35-99del	NP_116573.1:n.35-99del