Canonical Allele Identifier: CA751415862

Gene: SLC25A1

Linked Data

• ClinVar Variation Id: 591938
• ClinVar RCV Id: RCV000723121
• dbSNP Id: rs1364606581
• gnomAD v3: 22-19176154-G-GAGC
• gnomAD v4: 22-19176154-G-GAGC
• MyVariant Identifiers: chr22:g.19176154_19176155insAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176158_19176160dup , CM000684.2:g.19176158_19176160dup	GRCh38
NC_000022.10:g.19163671_19163673dup , CM000684.1:g.19163671_19163673dup	GRCh37
NC_000022.9:g.17543671_17543673dup	NCBI36
NG_033863.1:g.7707_7709dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.909_911dup MANE Select	ENSP00000215882.5:p.Leu304_Asn305insLeu
ENST00000215882.9:c.909_911dup	ENSP00000215882.5:p.Leu304_Asn305insLeu
ENST00000451283.5:c.600_602dup	ENSP00000401480.1:p.Leu201_Asn202insLeu
ENST00000470922.5:n.1051_1053dup
NM_001256534.1:c.930_932dup	NP_001243463.1:p.Leu311_Asn312insLeu
NM_001287387.1:c.600_602dup	NP_001274316.1:p.Leu201_Asn202insLeu
NM_005984.4:c.909_911dup	NP_005975.1:p.Leu304_Asn305insLeu
NR_046298.2:n.960_962dup
NM_005984.5:c.909_911dup MANE Select	NP_005975.1:p.Leu304_Asn305insLeu
NM_001256534.2:c.930_932dup	NP_001243463.1:p.Leu311_Asn312insLeu
NM_001287387.2:c.600_602dup	NP_001274316.1:p.Leu201_Asn202insLeu
NR_046298.3:n.833_835dup