Canonical Allele Identifier: CA2086592383

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 1325080
• ClinVar RCV Id: RCV001783757
• dbSNP Id: rs1882233400

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807395_40807398del , CM000675.2:g.40807395_40807398del	GRCh38
NC_000013.10:g.41381531_41381534del , CM000675.1:g.41381531_41381534del	GRCh37
NC_000013.9:g.40279531_40279534del	NCBI36
NG_012248.1:g.22985_22988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.554_557del (SLC25A15)	ENSP00000516711.1:p.Phe185SerfsTer8
ENST00000338625.9:c.554_557del (SLC25A15) MANE Select	ENSP00000342267.4:p.Phe185SerfsTer8
ENST00000338625.8:c.554_557del (SLC25A15)	ENSP00000342267.4:p.Phe185SerfsTer8
ENST00000470509.1:c.*237_*240del (SLC25A15)	ENSP00000431429.1:n.*237_*240del
ENST00000478827.1:n.1041_1044del (SLC25A15)
NM_014252.3:c.554_557del (SLC25A15)	NP_055067.1:p.Phe185SerfsTer8
NR_038258.1:n.623-6672_623-6669del (TPTE2P5)
NR_038259.1:n.452-6672_452-6669del (TPTE2P5)
NM_014252.4:c.554_557del (SLC25A15) MANE Select	NP_055067.1:p.Phe185SerfsTer8