Canonical Allele Identifier: CA2674823626

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761773-T-TTTTGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761773_110761774insTTTGAAG , CM000667.2:g.110761773_110761774insTTTGAAG	GRCh38
NC_000005.9:g.110097473_110097474insTTTGAAG , CM000667.1:g.110097473_110097474insTTTGAAG	GRCh37
NC_000005.8:g.110125372_110125373insTTTGAAG	NCBI36
NG_051334.1:g.28638_28639insTTTGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1248_1249insTTTGAAG MANE Select	ENSP00000348211.3:p.Asn417PhefsTer12
ENST00000355943.7:c.1248_1249insTTTGAAG	ENSP00000348211.3:p.Asn417PhefsTer12
ENST00000447245.6:c.1005_1006insTTTGAAG	ENSP00000399717.2:p.Asn336PhefsTer12
ENST00000504098.1:c.810_811insTTTGAAG	ENSP00000425708.1:p.Asn271PhefsTer12
ENST00000509432.1:c.609_610insTTTGAAG	ENSP00000426604.1:p.Asn204PhefsTer12
ENST00000513706.2:n.2848_2849insTTTGAAG
ENST00000513807.5:c.762_763insTTTGAAG	ENSP00000421134.1:p.Asn255PhefsTer12
NM_001303249.1:c.1005_1006insTTTGAAG	NP_001290178.1:p.Asn336PhefsTer12
NM_001303250.1:c.975_976insTTTGAAG	NP_001290179.1:p.Asn326PhefsTer12
NM_138773.2:c.1248_1249insTTTGAAG	NP_620128.1:p.Asn417PhefsTer12
NM_001303249.2:c.1005_1006insTTTGAAG	NP_001290178.1:p.Asn336PhefsTer12
NM_001303250.2:c.975_976insTTTGAAG	NP_001290179.1:p.Asn326PhefsTer12
NM_138773.3:c.1248_1249insTTTGAAG	NP_620128.1:p.Asn417PhefsTer12
NR_138151.1:n.1522_1523insTTTGAAG
NM_138773.4:c.1248_1249insTTTGAAG MANE Select	NP_620128.1:p.Asn417PhefsTer12
NM_001303249.3:c.1005_1006insTTTGAAG	NP_001290178.1:p.Asn336PhefsTer12
NM_001303250.3:c.975_976insTTTGAAG	NP_001290179.1:p.Asn326PhefsTer12
NR_138151.2:n.1487_1488insTTTGAAG