Canonical Allele Identifier: CA2674823624

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761771-A-ATGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761771_110761772insTGTT , CM000667.2:g.110761771_110761772insTGTT	GRCh38
NC_000005.9:g.110097471_110097472insTGTT , CM000667.1:g.110097471_110097472insTGTT	GRCh37
NC_000005.8:g.110125370_110125371insTGTT	NCBI36
NG_051334.1:g.28636_28637insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1246_1247insTGTT MANE Select	ENSP00000348211.3:p.Asn416MetfsTer3
ENST00000355943.7:c.1246_1247insTGTT	ENSP00000348211.3:p.Asn416MetfsTer3
ENST00000447245.6:c.1003_1004insTGTT	ENSP00000399717.2:p.Asn335MetfsTer3
ENST00000504098.1:c.808_809insTGTT	ENSP00000425708.1:p.Asn270MetfsTer3
ENST00000509432.1:c.607_608insTGTT	ENSP00000426604.1:p.Asn203MetfsTer3
ENST00000513706.2:n.2846_2847insTGTT
ENST00000513807.5:c.760_761insTGTT	ENSP00000421134.1:p.Asn254MetfsTer3
NM_001303249.1:c.1003_1004insTGTT	NP_001290178.1:p.Asn335MetfsTer3
NM_001303250.1:c.973_974insTGTT	NP_001290179.1:p.Asn325MetfsTer3
NM_138773.2:c.1246_1247insTGTT	NP_620128.1:p.Asn416MetfsTer3
NM_001303249.2:c.1003_1004insTGTT	NP_001290178.1:p.Asn335MetfsTer3
NM_001303250.2:c.973_974insTGTT	NP_001290179.1:p.Asn325MetfsTer3
NM_138773.3:c.1246_1247insTGTT	NP_620128.1:p.Asn416MetfsTer3
NR_138151.1:n.1520_1521insTGTT
NM_138773.4:c.1246_1247insTGTT MANE Select	NP_620128.1:p.Asn416MetfsTer3
NM_001303249.3:c.1003_1004insTGTT	NP_001290178.1:p.Asn335MetfsTer3
NM_001303250.3:c.973_974insTGTT	NP_001290179.1:p.Asn325MetfsTer3
NR_138151.2:n.1485_1486insTGTT