Canonical Allele Identifier: CA2655261340

Gene: SLC25A1

Linked Data

• gnomAD v4: 22-19176193-GGCCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176194_19176199del , CM000684.2:g.19176194_19176199del	GRCh38
NC_000022.10:g.19163707_19163712del , CM000684.1:g.19163707_19163712del	GRCh37
NC_000022.9:g.17543707_17543712del	NCBI36
NG_033863.1:g.7665_7670del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.867_872del MANE Select	ENSP00000215882.5:p.Val290_Ala291del
ENST00000215882.9:c.867_872del	ENSP00000215882.5:p.Val290_Ala291del
ENST00000451283.5:c.558_563del	ENSP00000401480.1:p.Val187_Ala188del
ENST00000470922.5:n.1009_1014del
NM_001256534.1:c.888_893del	NP_001243463.1:p.Val297_Ala298del
NM_001287387.1:c.558_563del	NP_001274316.1:p.Val187_Ala188del
NM_005984.4:c.867_872del	NP_005975.1:p.Val290_Ala291del
NR_046298.2:n.918_923del
NM_005984.5:c.867_872del MANE Select	NP_005975.1:p.Val290_Ala291del
NM_001256534.2:c.888_893del	NP_001243463.1:p.Val297_Ala298del
NM_001287387.2:c.558_563del	NP_001274316.1:p.Val187_Ala188del
NR_046298.3:n.791_796del