Canonical Allele Identifier: CA2818380977

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176594dup , CM000684.2:g.19176594dup	GRCh38
NC_000022.10:g.19164107dup , CM000684.1:g.19164107dup	GRCh37
NC_000022.9:g.17544107dup	NCBI36
NG_033863.1:g.7271dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.732dup MANE Select	ENSP00000215882.5:p.Lys245Ter
ENST00000215882.9:c.732dup	ENSP00000215882.5:p.Lys245Ter
ENST00000451283.5:c.423dup	ENSP00000401480.1:p.Lys142Ter
ENST00000470922.5:n.874dup
NM_001256534.1:c.753dup	NP_001243463.1:p.Lys252Ter
NM_001287387.1:c.423dup	NP_001274316.1:p.Lys142Ter
NM_005984.4:c.732dup	NP_005975.1:p.Lys245Ter
NR_046298.2:n.783dup
NM_005984.5:c.732dup MANE Select	NP_005975.1:p.Lys245Ter
NM_001256534.2:c.753dup	NP_001243463.1:p.Lys252Ter
NM_001287387.2:c.423dup	NP_001274316.1:p.Lys142Ter
NR_046298.3:n.656dup