Canonical Allele Identifier: CA340486

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 5992
• ClinVar RCV Id: RCV000006358 ; RCV002460886 ; RCV003421907
• dbSNP Id: rs202247803
• ExAC: 13:41381529 TTTC / T
• gnomAD v2: 13-41381529-TTTC-T
• gnomAD v3: 13-40807393-TTTC-T
• gnomAD v4: 13-40807393-TTTC-T
• COSMIC: COSM947393
• MyVariant Identifiers: chr13:g.41381539_41381541del (hg19) ; chr13:g.41381530_41381532del (hg19) ; chr13:g.40807403_40807405del (hg38) ; chr13:g.40807395_40807397del (hg38) ; chr13:g.40807394_40807396del (hg38)
• PubMed: PMID:10369256 ; PMID:22649802

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807403_40807405del , CM000675.2:g.40807403_40807405del	GRCh38
NC_000013.10:g.41381539_41381541del , CM000675.1:g.41381539_41381541del	GRCh37
NC_000013.9:g.40279539_40279541del	NCBI36
NG_012248.1:g.22993_22995del

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.562_564del (SLC25A15)	ENSP00000516711.1:p.Phe188del
ENST00000338625.9:c.562_564del (SLC25A15) MANE Select	ENSP00000342267.4:p.Phe188del
ENST00000338625.8:c.562_564del (SLC25A15)	ENSP00000342267.4:p.Phe188del
ENST00000470509.1:c.*245_*247del (SLC25A15)	ENSP00000431429.1:n.*245_*247del
ENST00000478827.1:n.1049_1051del (SLC25A15)
NM_014252.3:c.562_564del (SLC25A15)	NP_055067.1:p.Phe188del
NR_038258.1:n.623-6672_623-6670del (TPTE2P5)
NR_038259.1:n.452-6672_452-6670del (TPTE2P5)
NM_014252.4:c.562_564del (SLC25A15) MANE Select	NP_055067.1:p.Phe188del