Canonical Allele Identifier: CA2674823612

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761274-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761276_110761277del , CM000667.2:g.110761276_110761277del	GRCh38
NC_000005.9:g.110096976_110096977del , CM000667.1:g.110096976_110096977del	GRCh37
NC_000005.8:g.110124875_110124876del	NCBI36
NG_051334.1:g.28141_28142del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.751_752del MANE Select	ENSP00000348211.3:p.Gly251SerfsTer4
ENST00000355943.7:c.751_752del	ENSP00000348211.3:p.Gly251SerfsTer4
ENST00000447245.6:c.679-171_679-170del	ENSP00000399717.2:n.679-171_679-170del
ENST00000502462.6:n.1067_1068del
ENST00000504098.1:c.313_314del	ENSP00000425708.1:p.Gly105SerfsTer4
ENST00000509432.1:c.112_113del	ENSP00000426604.1:p.Gly38SerfsTer4
ENST00000513706.2:n.2351_2352del
ENST00000513807.5:c.265_266del	ENSP00000421134.1:p.Gly89SerfsTer4
NM_001303249.1:c.679-171_679-170del	NP_001290178.1:n.679-171_679-170del
NM_001303250.1:c.478_479del	NP_001290179.1:p.Gly160SerfsTer4
NM_138773.2:c.751_752del	NP_620128.1:p.Gly251SerfsTer4
NM_001303249.2:c.679-171_679-170del	NP_001290178.1:n.679-171_679-170del
NM_001303250.2:c.478_479del	NP_001290179.1:p.Gly160SerfsTer4
NM_138773.3:c.751_752del	NP_620128.1:p.Gly251SerfsTer4
NR_138151.1:n.1025_1026del
NM_138773.4:c.751_752del MANE Select	NP_620128.1:p.Gly251SerfsTer4
NM_001303249.3:c.679-171_679-170del	NP_001290178.1:n.679-171_679-170del
NM_001303250.3:c.478_479del	NP_001290179.1:p.Gly160SerfsTer4
NR_138151.2:n.990_991del