Canonical Allele Identifier: CA2395758753

Gene: SLC25A1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19177657_19177681delinsACCGGGCCAGCGGGGCCGCCCGTCT , CM000684.2:g.19177657_19177681delinsACCGGGCCAGCGGGGCCGCCCGTCT	GRCh38
NC_000022.10:g.19165170_19165194delinsACCGGGCCAGCGGGGCCGCCCGTCT , CM000684.1:g.19165170_19165194delinsACCGGGCCAGCGGGGCCGCCCGTCT	GRCh37
NC_000022.9:g.17545170_17545194delinsACCGGGCCAGCGGGGCCGCCCGTCT	NCBI36
NG_033805.1:g.119036_119060delinsAGACGGGCGGCCCCGCTGGCCCGGT
NG_033863.1:g.6183_6207delinsAGACGGGCGGCCCCGCTGGCCCGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000215882.10:c.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCCGGT MANE Select	ENSP00000215882.5:n.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCC...
ENST00000215882.9:c.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	ENSP00000215882.5:n.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCC...
ENST00000451283.5:c.132+46_132+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	ENSP00000401480.1:n.132+46_132+70delinsAGACGGGCGGCCCCGCTGGCCC...
ENST00000461267.1:n.587+46_587+70delinsAGACGGGCGGCCCCGCTGGCCCGGT
ENST00000470922.5:n.583+46_583+70delinsAGACGGGCGGCCCCGCTGGCCCGGT
NM_001256534.1:c.462+46_462+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	NP_001243463.1:n.462+46_462+70delinsAGACGGGCGGCCCCGCTGGCCCGGT...
NM_001287387.1:c.132+46_132+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	NP_001274316.1:n.132+46_132+70delinsAGACGGGCGGCCCCGCTGGCCCGGT...
NM_005984.4:c.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	NP_005975.1:n.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCCGGT
NR_046298.2:n.492+261_492+285delinsAGACGGGCGGCCCCGCTGGCCCGGT
NM_005984.5:c.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCCGGT MANE Select	NP_005975.1:n.441+46_441+70delinsAGACGGGCGGCCCCGCTGGCCCGGT
NM_001256534.2:c.462+46_462+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	NP_001243463.1:n.462+46_462+70delinsAGACGGGCGGCCCCGCTGGCCCGGT...
NM_001287387.2:c.132+46_132+70delinsAGACGGGCGGCCCCGCTGGCCCGGT	NP_001274316.1:n.132+46_132+70delinsAGACGGGCGGCCCCGCTGGCCCGGT...
NR_046298.3:n.365+261_365+285delinsAGACGGGCGGCCCCGCTGGCCCGGT