Canonical Allele Identifier: CA2395758226
Gene: SLC25A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.19176580_19176583delinsGCAT , CM000684.2:g.19176580_19176583delinsGCAT GRCh38
NC_000022.10:g.19164093_19164096delinsGCAT , CM000684.1:g.19164093_19164096delinsGCAT GRCh37
NC_000022.9:g.17544093_17544096delinsGCAT NCBI36
NG_033863.1:g.7281_7284delinsATGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000215882.10:c.742_745delinsATGC MANE Select ENSP00000215882.5:p.Met248=
ENST00000215882.9:c.742_745delinsATGC ENSP00000215882.5:p.Met248=
ENST00000451283.5:c.433_436delinsATGC ENSP00000401480.1:p.Met145=
ENST00000470922.5:n.884_887delinsATGC
NM_001256534.1:c.763_766delinsATGC NP_001243463.1:p.Met255=
NM_001287387.1:c.433_436delinsATGC NP_001274316.1:p.Met145=
NM_005984.4:c.742_745delinsATGC NP_005975.1:p.Met248=
NR_046298.2:n.793_796delinsATGC
NM_005984.5:c.742_745delinsATGC MANE Select NP_005975.1:p.Met248=
NM_001256534.2:c.763_766delinsATGC NP_001243463.1:p.Met255=
NM_001287387.2:c.433_436delinsATGC NP_001274316.1:p.Met145=
NR_046298.3:n.666_669delinsATGC