Canonical Allele Identifier: CA2577642954
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176404_19176409del , CM000684.2:g.19176404_19176409del GRCh38
NC_000022.10:g.19163917_19163922del , CM000684.1:g.19163917_19163922del GRCh37
NC_000022.9:g.17543917_17543922del NCBI36
NG_033863.1:g.7459_7464del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.821+16_821+21del MANE Select ENSP00000215882.5:n.821+16_821+21del
ENST00000215882.9:c.821+16_821+21del ENSP00000215882.5:n.821+16_821+21del
ENST00000451283.5:c.512+16_512+21del ENSP00000401480.1:n.512+16_512+21del
ENST00000470922.5:n.963+16_963+21del
NM_001256534.1:c.842+16_842+21del NP_001243463.1:n.842+16_842+21del
NM_001287387.1:c.512+16_512+21del NP_001274316.1:n.512+16_512+21del
NM_005984.4:c.821+16_821+21del NP_005975.1:n.821+16_821+21del
NR_046298.2:n.872+16_872+21del
NM_005984.5:c.821+16_821+21del MANE Select NP_005975.1:n.821+16_821+21del
NM_001256534.2:c.842+16_842+21del NP_001243463.1:n.842+16_842+21del
NM_001287387.2:c.512+16_512+21del NP_001274316.1:n.512+16_512+21del
NR_046298.3:n.745+16_745+21del