Canonical Allele Identifier: CA2674823622

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761746-A-AATT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761750_110761752dup , CM000667.2:g.110761750_110761752dup	GRCh38
NC_000005.9:g.110097450_110097452dup , CM000667.1:g.110097450_110097452dup	GRCh37
NC_000005.8:g.110125349_110125351dup	NCBI36
NG_051334.1:g.28615_28617dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1225_1227dup MANE Select	ENSP00000348211.3:p.Ile409_Tyr410insIle
ENST00000355943.7:c.1225_1227dup	ENSP00000348211.3:p.Ile409_Tyr410insIle
ENST00000447245.6:c.982_984dup	ENSP00000399717.2:p.Ile328_Tyr329insIle
ENST00000504098.1:c.787_789dup	ENSP00000425708.1:p.Ile263_Tyr264insIle
ENST00000509432.1:c.586_588dup	ENSP00000426604.1:p.Ile196_Tyr197insIle
ENST00000513706.2:n.2825_2827dup
ENST00000513807.5:c.739_741dup	ENSP00000421134.1:p.Ile247_Tyr248insIle
NM_001303249.1:c.982_984dup	NP_001290178.1:p.Ile328_Tyr329insIle
NM_001303250.1:c.952_954dup	NP_001290179.1:p.Ile318_Tyr319insIle
NM_138773.2:c.1225_1227dup	NP_620128.1:p.Ile409_Tyr410insIle
NM_001303249.2:c.982_984dup	NP_001290178.1:p.Ile328_Tyr329insIle
NM_001303250.2:c.952_954dup	NP_001290179.1:p.Ile318_Tyr319insIle
NM_138773.3:c.1225_1227dup	NP_620128.1:p.Ile409_Tyr410insIle
NR_138151.1:n.1499_1501dup
NM_138773.4:c.1225_1227dup MANE Select	NP_620128.1:p.Ile409_Tyr410insIle
NM_001303249.3:c.982_984dup	NP_001290178.1:p.Ile328_Tyr329insIle
NM_001303250.3:c.952_954dup	NP_001290179.1:p.Ile318_Tyr319insIle
NR_138151.2:n.1464_1466dup