Canonical Allele Identifier: CA2655261460

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176603-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176607_19176609del , CM000684.2:g.19176607_19176609del	GRCh38
NC_000022.10:g.19164120_19164122del , CM000684.1:g.19164120_19164122del	GRCh37
NC_000022.9:g.17544120_17544122del	NCBI36
NG_033863.1:g.7258_7260del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.719_721del MANE Select	ENSP00000215882.5:p.Pro240del
ENST00000215882.9:c.719_721del	ENSP00000215882.5:p.Pro240del
ENST00000451283.5:c.410_412del	ENSP00000401480.1:p.Pro137del
ENST00000470922.5:n.861_863del
NM_001256534.1:c.740_742del	NP_001243463.1:p.Pro247del
NM_001287387.1:c.410_412del	NP_001274316.1:p.Pro137del
NM_005984.4:c.719_721del	NP_005975.1:p.Pro240del
NR_046298.2:n.770_772del
NM_005984.5:c.719_721del MANE Select	NP_005975.1:p.Pro240del
NM_001256534.2:c.740_742del	NP_001243463.1:p.Pro247del
NM_001287387.2:c.410_412del	NP_001274316.1:p.Pro137del
NR_046298.3:n.643_645del