Canonical Allele Identifier: CA2577642945
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176367_19176370del , CM000684.2:g.19176367_19176370del GRCh38
NC_000022.10:g.19163880_19163883del , CM000684.1:g.19163880_19163883del GRCh37
NC_000022.9:g.17543880_17543883del NCBI36
NG_033863.1:g.7497_7500del

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.821+54_821+57del MANE Select ENSP00000215882.5:n.821+54_821+57del
ENST00000215882.9:c.821+54_821+57del ENSP00000215882.5:n.821+54_821+57del
ENST00000451283.5:c.512+54_512+57del ENSP00000401480.1:n.512+54_512+57del
ENST00000470922.5:n.963+54_963+57del
NM_001256534.1:c.842+54_842+57del NP_001243463.1:n.842+54_842+57del
NM_001287387.1:c.512+54_512+57del NP_001274316.1:n.512+54_512+57del
NM_005984.4:c.821+54_821+57del NP_005975.1:n.821+54_821+57del
NR_046298.2:n.872+54_872+57del
NM_005984.5:c.821+54_821+57del MANE Select NP_005975.1:n.821+54_821+57del
NM_001256534.2:c.842+54_842+57del NP_001243463.1:n.842+54_842+57del
NM_001287387.2:c.512+54_512+57del NP_001274316.1:n.512+54_512+57del
NR_046298.3:n.745+54_745+57del