Canonical Allele Identifier: CA2575400351
Community Standard Title: NM_014252.4(SLC25A15):c.530_534del (p.Leu177SerfsTer14)
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807371_40807375del , CM000675.2:g.40807371_40807375del GRCh38
NC_000013.10:g.41381507_41381511del , CM000675.1:g.41381507_41381511del GRCh37
NC_000013.9:g.40279507_40279511del NCBI36
NG_012248.1:g.22961_22965del

Transcript Alleles

HGVS Amino-acid Change
NM_014252.4:c.530_534del (SLC25A15) MANE Select NP_055067.1:p.Leu177SerfsTer14
ENST00000338625.9:c.530_534del (SLC25A15) MANE Select ENSP00000342267.4:p.Leu177SerfsTer14
NM_014252.3:c.530_534del (SLC25A15) NP_055067.1:p.Leu177SerfsTer14
NR_038258.1:n.623-6647_623-6643del (TPTE2P5)
NR_038259.1:n.452-6647_452-6643del (TPTE2P5)
ENST00000338625.8:c.530_534del (SLC25A15) ENSP00000342267.4:p.Leu177SerfsTer14
ENST00000417731.5:c.392_396del (SLC25A15) ENSP00000415826.1:p.Leu131SerfsTer?
ENST00000470509.1:c.*213_*217del (SLC25A15) ENSP00000431429.1:n.*213_*217del
ENST00000478827.1:n.1017_1021del (SLC25A15)
ENST00000707033.1:c.530_534del (SLC25A15) ENSP00000516711.1:p.Leu177SerfsTer14