Canonical Allele Identifier: CA2577642900

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176186dup , CM000684.2:g.19176186dup	GRCh38
NC_000022.10:g.19163699dup , CM000684.1:g.19163699dup	GRCh37
NC_000022.9:g.17543699dup	NCBI36
NG_033863.1:g.7680dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.882dup MANE Select	ENSP00000215882.5:p.Val295CysfsTer4
ENST00000215882.9:c.882dup	ENSP00000215882.5:p.Val295CysfsTer4
ENST00000451283.5:c.573dup	ENSP00000401480.1:p.Val192CysfsTer4
ENST00000470922.5:n.1024dup
NM_001256534.1:c.903dup	NP_001243463.1:p.Val302CysfsTer4
NM_001287387.1:c.573dup	NP_001274316.1:p.Val192CysfsTer4
NM_005984.4:c.882dup	NP_005975.1:p.Val295CysfsTer4
NR_046298.2:n.933dup
NM_005984.5:c.882dup MANE Select	NP_005975.1:p.Val295CysfsTer4
NM_001256534.2:c.903dup	NP_001243463.1:p.Val302CysfsTer4
NM_001287387.2:c.573dup	NP_001274316.1:p.Val192CysfsTer4
NR_046298.3:n.806dup