Canonical Allele Identifier: CA751415800

Gene: SLC25A1

Linked Data

• dbSNP Id: rs1238135481
• MyVariant Identifiers: chr22:g.19176098_19176109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19176100_19176111del , CM000684.2:g.19176100_19176111del	GRCh38
NC_000022.10:g.19163613_19163624del , CM000684.1:g.19163613_19163624del	GRCh37
NC_000022.9:g.17543613_17543624del	NCBI36
NG_033863.1:g.7755_7766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215882.10:c.*21_*32del MANE Select	ENSP00000215882.5:n.*21_*32del
ENST00000215882.9:c.*21_*32del	ENSP00000215882.5:n.*21_*32del
ENST00000451283.5:c.*21_*32del	ENSP00000401480.1:n.*21_*32del
ENST00000470922.5:n.1099_1110del
NM_001256534.1:c.*21_*32del	NP_001243463.1:n.*21_*32del
NM_001287387.1:c.*21_*32del	NP_001274316.1:n.*21_*32del
NM_005984.4:c.*21_*32del	NP_005975.1:n.*21_*32del
NR_046298.2:n.1008_1019del
NM_005984.5:c.*21_*32del MANE Select	NP_005975.1:n.*21_*32del
NM_001256534.2:c.*21_*32del	NP_001243463.1:n.*21_*32del
NM_001287387.2:c.*21_*32del	NP_001274316.1:n.*21_*32del
NR_046298.3:n.881_892del