Canonical Allele Identifier: CA566690735

Gene: AIF1

Linked Data

• dbSNP Id: rs1365261524
• gnomAD v2: 6-31583966-TAAG-T
• gnomAD v3: 6-31616189-TAAG-T
• gnomAD v4: 6-31616189-TAAG-T
• MyVariant Identifiers: chr6:g.31583967_31583969del (hg19) ; chr6:g.31616190_31616192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616194_31616196del , CM000668.2:g.31616194_31616196del	GRCh38
NC_000006.11:g.31583971_31583973del , CM000668.1:g.31583971_31583973del	GRCh37
NC_000006.10:g.31691950_31691952del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.196+49_196+51del MANE Select	ENSP00000365227.3:n.196+49_196+51del
ENST00000337917.11:c.238+49_238+51del	ENSP00000338776.7:n.238+49_238+51del
ENST00000376049.4:c.34+49_34+51del	ENSP00000365217.4:n.34+49_34+51del
ENST00000376059.7:c.196+49_196+51del	ENSP00000365227.3:n.196+49_196+51del
ENST00000466820.1:n.662_664del
ENST00000497362.5:n.664_666del
NM_001623.3:c.196+49_196+51del	NP_001614.3:n.196+49_196+51del
NM_004847.3:c.83_85del	NP_004838.1:p.Lys28del
NM_032955.1:c.34+49_34+51del	NP_116573.1:n.34+49_34+51del
XM_005248870.3:c.245_247del	XP_005248927.1:p.Lys82del
XM_005248871.1:c.259+49_259+51del	XP_005248928.1:n.259+49_259+51del
NM_001318970.1:c.34+49_34+51del	NP_001305899.1:n.34+49_34+51del
NM_001623.4:c.196+49_196+51del	NP_001614.3:n.196+49_196+51del
NM_032955.2:c.34+49_34+51del	NP_116573.1:n.34+49_34+51del
XM_005248870.4:c.245_247del	XP_005248927.1:p.Lys82del
XM_017010332.1:c.83_85del	XP_016865821.1:p.Lys28del
NM_001623.5:c.196+49_196+51del MANE Select	NP_001614.3:n.196+49_196+51del
NM_001318970.2:c.34+49_34+51del	NP_001305899.1:n.34+49_34+51del
NM_032955.3:c.34+49_34+51del	NP_116573.1:n.34+49_34+51del