Canonical Allele Identifier: CA566690762

Gene: AIF1

Linked Data

• dbSNP Id: rs1439296203
• gnomAD v2: 6-31584094-C-CTCCCCA
• gnomAD v3: 6-31616317-C-CTCCCCA
• gnomAD v4: 6-31616317-C-CTCCCCA
• MyVariant Identifiers: chr6:g.31584094_31584095insTCCCCA (hg19) ; chr6:g.31616317_31616318insTCCCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616327_31616332dup , CM000668.2:g.31616327_31616332dup	GRCh38
NC_000006.11:g.31584104_31584109dup , CM000668.1:g.31584104_31584109dup	GRCh37
NC_000006.10:g.31692083_31692088dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-17_197-12dup MANE Select	ENSP00000365227.3:n.197-17_197-12dup
ENST00000337917.11:c.239-17_239-12dup	ENSP00000338776.7:n.239-17_239-12dup
ENST00000376049.4:c.35-17_35-12dup	ENSP00000365217.4:n.35-17_35-12dup
ENST00000376059.7:c.197-17_197-12dup	ENSP00000365227.3:n.197-17_197-12dup
ENST00000466820.1:n.795_800dup
ENST00000497362.5:n.797_802dup
NM_001623.3:c.197-17_197-12dup	NP_001614.3:n.197-17_197-12dup
NM_004847.3:c.216_221dup	NP_004838.1:p.Pro74_Leu75insHisPro
NM_032955.1:c.35-17_35-12dup	NP_116573.1:n.35-17_35-12dup
XM_005248870.3:c.378_383dup	XP_005248927.1:p.Pro128_Leu129insHisPro
XM_005248871.1:c.260-17_260-12dup	XP_005248928.1:n.260-17_260-12dup
NM_001318970.1:c.35-17_35-12dup	NP_001305899.1:n.35-17_35-12dup
NM_001623.4:c.197-17_197-12dup	NP_001614.3:n.197-17_197-12dup
NM_032955.2:c.35-17_35-12dup	NP_116573.1:n.35-17_35-12dup
XM_005248870.4:c.378_383dup	XP_005248927.1:p.Pro128_Leu129insHisPro
XM_017010332.1:c.216_221dup	XP_016865821.1:p.Pro74_Leu75insHisPro
NM_001623.5:c.197-17_197-12dup MANE Select	NP_001614.3:n.197-17_197-12dup
NM_001318970.2:c.35-17_35-12dup	NP_001305899.1:n.35-17_35-12dup
NM_032955.3:c.35-17_35-12dup	NP_116573.1:n.35-17_35-12dup