Canonical Allele Identifier: CA1080062849

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1800231848
• gnomAD v3: 5-110760907-AC-A
• gnomAD v4: 5-110760907-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110760908del , CM000667.2:g.110760908del	GRCh38
NC_000005.9:g.110096608del , CM000667.1:g.110096608del	GRCh37
NC_000005.8:g.110124507del	NCBI36
NG_051334.1:g.27773del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.679-296del MANE Select	ENSP00000348211.3:n.679-296del
ENST00000355943.7:c.679-296del	ENSP00000348211.3:n.679-296del
ENST00000447245.6:c.679-539del	ENSP00000399717.2:n.679-539del
ENST00000502462.6:n.995-296del
ENST00000504098.1:c.241-296del	ENSP00000425708.1:n.241-296del
ENST00000509432.1:c.40-296del	ENSP00000426604.1:n.40-296del
ENST00000513706.2:n.2279-296del
ENST00000513807.5:c.193-296del	ENSP00000421134.1:n.193-296del
NM_001303249.1:c.679-539del	NP_001290178.1:n.679-539del
NM_001303250.1:c.406-296del	NP_001290179.1:n.406-296del
NM_138773.2:c.679-296del	NP_620128.1:n.679-296del
NM_001303249.2:c.679-539del	NP_001290178.1:n.679-539del
NM_001303250.2:c.406-296del	NP_001290179.1:n.406-296del
NM_138773.3:c.679-296del	NP_620128.1:n.679-296del
NR_138151.1:n.953-296del
NM_138773.4:c.679-296del MANE Select	NP_620128.1:n.679-296del
NM_001303249.3:c.679-539del	NP_001290178.1:n.679-539del
NM_001303250.3:c.406-296del	NP_001290179.1:n.406-296del
NR_138151.2:n.918-296del