Canonical Allele Identifier: CA2573149653
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1452998
ClinVar RCV Id: RCV001994702
dbSNP Id: rs2138056832
gnomAD v4: 13-40807410-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807411del , CM000675.2:g.40807411del GRCh38
NC_000013.10:g.41381547del , CM000675.1:g.41381547del GRCh37
NC_000013.9:g.40279547del NCBI36
NG_012248.1:g.23001del

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.570del (SLC25A15) ENSP00000516711.1:p.Tyr191MetfsTer3
ENST00000338625.9:c.570del (SLC25A15) MANE Select ENSP00000342267.4:p.Tyr191MetfsTer3
ENST00000338625.8:c.570del (SLC25A15) ENSP00000342267.4:p.Tyr191MetfsTer3
ENST00000470509.1:c.*253del (SLC25A15) ENSP00000431429.1:n.*253del
ENST00000478827.1:n.1057del (SLC25A15)
NM_014252.3:c.570del (SLC25A15) NP_055067.1:p.Tyr191MetfsTer3
NR_038258.1:n.623-6687del (TPTE2P5)
NR_038259.1:n.452-6687del (TPTE2P5)
NM_014252.4:c.570del (SLC25A15) MANE Select NP_055067.1:p.Tyr191MetfsTer3
Search 100 bp 5'
Search 100 bp 3'