Canonical Allele Identifier: CA2578565669

Gene: AIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616108del , CM000668.2:g.31616108del	GRCh38
NC_000006.11:g.31583885del , CM000668.1:g.31583885del	GRCh37
NC_000006.10:g.31691864del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.159del MANE Select	ENSP00000365227.3:p.Lys53AsnfsTer18
ENST00000337917.11:c.201del	ENSP00000338776.7:p.Lys67AsnfsTer18
ENST00000376049.4:c.-4del	ENSP00000365217.4:n.-4del
ENST00000376059.7:c.159del	ENSP00000365227.3:p.Lys53AsnfsTer18
ENST00000466820.1:n.576del
ENST00000497362.5:n.578del
NM_001623.3:c.159del	NP_001614.3:p.Lys53AsnfsTer18
NM_004847.3:c.-4del	NP_004838.1:n.-4del
NM_032955.1:c.-4del	NP_116573.1:n.-4del
XM_005248870.3:c.159del	XP_005248927.1:p.Lys53AsnfsTer18
XM_005248871.1:c.222del	XP_005248928.1:p.Lys74AsnfsTer18
NM_001318970.1:c.-4del	NP_001305899.1:n.-4del
NM_001623.4:c.159del	NP_001614.3:p.Lys53AsnfsTer18
NM_032955.2:c.-4del	NP_116573.1:n.-4del
XM_005248870.4:c.159del	XP_005248927.1:p.Lys53AsnfsTer18
XM_017010332.1:c.-4del	XP_016865821.1:n.-4del
NM_001623.5:c.159del MANE Select	NP_001614.3:p.Lys53AsnfsTer18
NM_001318970.2:c.-4del	NP_001305899.1:n.-4del
NM_032955.3:c.-4del	NP_116573.1:n.-4del