Canonical Allele Identifier: CA2677994809

Gene: AIF1

Linked Data

• gnomAD v4: 6-31616109-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616109_31616110insC , CM000668.2:g.31616109_31616110insC	GRCh38
NC_000006.11:g.31583886_31583887insC , CM000668.1:g.31583886_31583887insC	GRCh37
NC_000006.10:g.31691865_31691866insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.160_161insC MANE Select	ENSP00000365227.3:p.Tyr54SerfsTer5
ENST00000337917.11:c.202_203insC	ENSP00000338776.7:p.Tyr68SerfsTer5
ENST00000376049.4:c.-3_-2insC	ENSP00000365217.4:n.-3_-2insC
ENST00000376059.7:c.160_161insC	ENSP00000365227.3:p.Tyr54SerfsTer5
ENST00000466820.1:n.577_578insC
ENST00000497362.5:n.579_580insC
NM_001623.3:c.160_161insC	NP_001614.3:p.Tyr54SerfsTer5
NM_004847.3:c.-3_-2insC	NP_004838.1:n.-3_-2insC
NM_032955.1:c.-3_-2insC	NP_116573.1:n.-3_-2insC
XM_005248870.3:c.160_161insC	XP_005248927.1:p.Tyr54SerfsTer5
XM_005248871.1:c.223_224insC	XP_005248928.1:p.Tyr75SerfsTer5
NM_001318970.1:c.-3_-2insC	NP_001305899.1:n.-3_-2insC
NM_001623.4:c.160_161insC	NP_001614.3:p.Tyr54SerfsTer5
NM_032955.2:c.-3_-2insC	NP_116573.1:n.-3_-2insC
XM_005248870.4:c.160_161insC	XP_005248927.1:p.Tyr54SerfsTer5
XM_017010332.1:c.-3_-2insC	XP_016865821.1:n.-3_-2insC
NM_001623.5:c.160_161insC MANE Select	NP_001614.3:p.Tyr54SerfsTer5
NM_001318970.2:c.-3_-2insC	NP_001305899.1:n.-3_-2insC
NM_032955.3:c.-3_-2insC	NP_116573.1:n.-3_-2insC