Canonical Allele Identifier: CA2674823615

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761441-GTGCAGAGTATGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761444_110761455del , CM000667.2:g.110761444_110761455del	GRCh38
NC_000005.9:g.110097144_110097155del , CM000667.1:g.110097144_110097155del	GRCh37
NC_000005.8:g.110125043_110125054del	NCBI36
NG_051334.1:g.28309_28320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.919_930del MANE Select	ENSP00000348211.3:p.Gln307_Leu310del
ENST00000355943.7:c.919_930del	ENSP00000348211.3:p.Gln307_Leu310del
ENST00000447245.6:c.679-3_687del
ENST00000502462.6:n.1235_1246del
ENST00000504098.1:c.481_492del	ENSP00000425708.1:p.Gln161_Leu164del
ENST00000509432.1:c.280_291del	ENSP00000426604.1:p.Gln94_Leu97del
ENST00000513706.2:n.2519_2530del
ENST00000513807.5:c.433_444del	ENSP00000421134.1:p.Gln145_Leu148del
NM_001303249.1:c.679-3_687del
NM_001303250.1:c.646_657del	NP_001290179.1:p.Gln216_Leu219del
NM_138773.2:c.919_930del	NP_620128.1:p.Gln307_Leu310del
NM_001303249.2:c.679-3_687del
NM_001303250.2:c.646_657del	NP_001290179.1:p.Gln216_Leu219del
NM_138773.3:c.919_930del	NP_620128.1:p.Gln307_Leu310del
NR_138151.1:n.1193_1204del
NM_138773.4:c.919_930del MANE Select	NP_620128.1:p.Gln307_Leu310del
NM_001303249.3:c.679-3_687del
NM_001303250.3:c.646_657del	NP_001290179.1:p.Gln216_Leu219del
NR_138151.2:n.1158_1169del