Canonical Allele Identifier: CA566690757

Gene: AIF1

Linked Data

• dbSNP Id: rs772215997
• gnomAD v2: 6-31584070-G-GGA
• gnomAD v4: 6-31616293-G-GGA
• MyVariant Identifiers: chr6:g.31584074_31584075insGA (hg19) ; chr6:g.31616297_31616298insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616301_31616302dup , CM000668.2:g.31616301_31616302dup	GRCh38
NC_000006.11:g.31584078_31584079dup , CM000668.1:g.31584078_31584079dup	GRCh37
NC_000006.10:g.31692057_31692058dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.197-43_197-42dup MANE Select	ENSP00000365227.3:n.197-43_197-42dup
ENST00000337917.11:c.239-43_239-42dup	ENSP00000338776.7:n.239-43_239-42dup
ENST00000376049.4:c.35-43_35-42dup	ENSP00000365217.4:n.35-43_35-42dup
ENST00000376059.7:c.197-43_197-42dup	ENSP00000365227.3:n.197-43_197-42dup
ENST00000466820.1:n.769_770dup
ENST00000497362.5:n.771_772dup
NM_001623.3:c.197-43_197-42dup	NP_001614.3:n.197-43_197-42dup
NM_004847.3:c.190_191dup	NP_004838.1:p.Val65GlyfsTer19
NM_032955.1:c.35-43_35-42dup	NP_116573.1:n.35-43_35-42dup
XM_005248870.3:c.352_353dup	XP_005248927.1:p.Val119GlyfsTer19
XM_005248871.1:c.260-43_260-42dup	XP_005248928.1:n.260-43_260-42dup
NM_001318970.1:c.35-43_35-42dup	NP_001305899.1:n.35-43_35-42dup
NM_001623.4:c.197-43_197-42dup	NP_001614.3:n.197-43_197-42dup
NM_032955.2:c.35-43_35-42dup	NP_116573.1:n.35-43_35-42dup
XM_005248870.4:c.352_353dup	XP_005248927.1:p.Val119GlyfsTer19
XM_017010332.1:c.190_191dup	XP_016865821.1:p.Val65GlyfsTer19
NM_001623.5:c.197-43_197-42dup MANE Select	NP_001614.3:n.197-43_197-42dup
NM_001318970.2:c.35-43_35-42dup	NP_001305899.1:n.35-43_35-42dup
NM_032955.3:c.35-43_35-42dup	NP_116573.1:n.35-43_35-42dup