Canonical Allele Identifier: CA3364829

Gene: SLC25A46

Linked Data

• dbSNP Id: rs773438460
• ExAC: 5:110097455 C / CTCTACACT
• gnomAD v2: 5-110097455-C-CTCTACACT
• gnomAD v4: 5-110761755-C-CTCTACACT
• MyVariant Identifiers: chr5:g.110097455_110097456insTCTACACT (hg19) ; chr5:g.110761755_110761756insTCTACACT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761759_110761766dup , CM000667.2:g.110761759_110761766dup	GRCh38
NC_000005.9:g.110097459_110097466dup , CM000667.1:g.110097459_110097466dup	GRCh37
NC_000005.8:g.110125358_110125365dup	NCBI36
NG_051334.1:g.28624_28631dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1234_1241dup MANE Select	ENSP00000348211.3:p.Gln415HisfsTer10
ENST00000355943.7:c.1234_1241dup	ENSP00000348211.3:p.Gln415HisfsTer10
ENST00000447245.6:c.991_998dup	ENSP00000399717.2:p.Gln334HisfsTer10
ENST00000504098.1:c.796_803dup	ENSP00000425708.1:p.Gln269HisfsTer10
ENST00000509432.1:c.595_602dup	ENSP00000426604.1:p.Gln202HisfsTer10
ENST00000513706.2:n.2834_2841dup
ENST00000513807.5:c.748_755dup	ENSP00000421134.1:p.Gln253HisfsTer10
NM_001303249.1:c.991_998dup	NP_001290178.1:p.Gln334HisfsTer10
NM_001303250.1:c.961_968dup	NP_001290179.1:p.Gln324HisfsTer10
NM_138773.2:c.1234_1241dup	NP_620128.1:p.Gln415HisfsTer10
NM_001303249.2:c.991_998dup	NP_001290178.1:p.Gln334HisfsTer10
NM_001303250.2:c.961_968dup	NP_001290179.1:p.Gln324HisfsTer10
NM_138773.3:c.1234_1241dup	NP_620128.1:p.Gln415HisfsTer10
NR_138151.1:n.1508_1515dup
NM_138773.4:c.1234_1241dup MANE Select	NP_620128.1:p.Gln415HisfsTer10
NM_001303249.3:c.991_998dup	NP_001290178.1:p.Gln334HisfsTer10
NM_001303250.3:c.961_968dup	NP_001290179.1:p.Gln324HisfsTer10
NR_138151.2:n.1473_1480dup