Canonical Allele Identifier: CA125344918

Gene: SLC25A46

Linked Data

• dbSNP Id: rs367626482
• gnomAD v2: 5-110096741-GA-G
• gnomAD v3: 5-110761041-GA-G
• gnomAD v4: 5-110761041-GA-G
• MyVariant Identifiers: chr5:g.110096742del (hg19) ; chr5:g.110761042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761049del , CM000667.2:g.110761049del	GRCh38
NC_000005.9:g.110096749del , CM000667.1:g.110096749del	GRCh37
NC_000005.8:g.110124648del	NCBI36
NG_051334.1:g.27914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.679-155del MANE Select	ENSP00000348211.3:n.679-155del
ENST00000355943.7:c.679-155del	ENSP00000348211.3:n.679-155del
ENST00000447245.6:c.679-398del	ENSP00000399717.2:n.679-398del
ENST00000502462.6:n.995-155del
ENST00000504098.1:c.241-155del	ENSP00000425708.1:n.241-155del
ENST00000509432.1:c.40-155del	ENSP00000426604.1:n.40-155del
ENST00000513706.2:n.2279-155del
ENST00000513807.5:c.193-155del	ENSP00000421134.1:n.193-155del
NM_001303249.1:c.679-398del	NP_001290178.1:n.679-398del
NM_001303250.1:c.406-155del	NP_001290179.1:n.406-155del
NM_138773.2:c.679-155del	NP_620128.1:n.679-155del
NM_001303249.2:c.679-398del	NP_001290178.1:n.679-398del
NM_001303250.2:c.406-155del	NP_001290179.1:n.406-155del
NM_138773.3:c.679-155del	NP_620128.1:n.679-155del
NR_138151.1:n.953-155del
NM_138773.4:c.679-155del MANE Select	NP_620128.1:n.679-155del
NM_001303249.3:c.679-398del	NP_001290178.1:n.679-398del
NM_001303250.3:c.406-155del	NP_001290179.1:n.406-155del
NR_138151.2:n.918-155del