Canonical Allele Identifier: CA823905086

Gene: AIF1

Linked Data

• dbSNP Id: rs1430208543
• MyVariant Identifiers: chr6:g.31583954_31583955insGT (hg19) ; chr6:g.31616177_31616178insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616181_31616182dup , CM000668.2:g.31616181_31616182dup	GRCh38
NC_000006.11:g.31583958_31583959dup , CM000668.1:g.31583958_31583959dup	GRCh37
NC_000006.10:g.31691937_31691938dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000376059.8:c.196+36_196+37dup MANE Select	ENSP00000365227.3:n.196+36_196+37dup
ENST00000337917.11:c.238+36_238+37dup	ENSP00000338776.7:n.238+36_238+37dup
ENST00000376049.4:c.34+36_34+37dup	ENSP00000365217.4:n.34+36_34+37dup
ENST00000376059.7:c.196+36_196+37dup	ENSP00000365227.3:n.196+36_196+37dup
ENST00000466820.1:n.649_650dup
ENST00000497362.5:n.651_652dup
NM_001623.3:c.196+36_196+37dup	NP_001614.3:n.196+36_196+37dup
NM_004847.3:c.70_71dup	NP_004838.1:p.Arg25AlafsTer?
NM_032955.1:c.34+36_34+37dup	NP_116573.1:n.34+36_34+37dup
XM_005248870.3:c.232_233dup	XP_005248927.1:p.Arg79AlafsTer?
XM_005248871.1:c.259+36_259+37dup	XP_005248928.1:n.259+36_259+37dup
NM_001318970.1:c.34+36_34+37dup	NP_001305899.1:n.34+36_34+37dup
NM_001623.4:c.196+36_196+37dup	NP_001614.3:n.196+36_196+37dup
NM_032955.2:c.34+36_34+37dup	NP_116573.1:n.34+36_34+37dup
XM_005248870.4:c.232_233dup	XP_005248927.1:p.Arg79AlafsTer?
XM_017010332.1:c.70_71dup	XP_016865821.1:p.Arg25AlafsTer?
NM_001623.5:c.196+36_196+37dup MANE Select	NP_001614.3:n.196+36_196+37dup
NM_001318970.2:c.34+36_34+37dup	NP_001305899.1:n.34+36_34+37dup
NM_032955.3:c.34+36_34+37dup	NP_116573.1:n.34+36_34+37dup