Canonical Allele Identifier: CA6959609

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 2139424
• ClinVar RCV Id: RCV003052591
• dbSNP Id: rs573099150
• ExAC: 13:41373176 ATC / A
• gnomAD v2: 13-41373176-ATC-A
• gnomAD v3: 13-40799040-ATC-A
• gnomAD v4: 13-40799040-ATC-A
• MyVariant Identifiers: chr13:g.41373177_41373178del (hg19) ; chr13:g.40799041_40799042del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40799042_40799043del , CM000675.2:g.40799042_40799043del	GRCh38
NC_000013.10:g.41373178_41373179del , CM000675.1:g.41373178_41373179del	GRCh37
NC_000013.9:g.40271178_40271179del	NCBI36
NG_012248.1:g.14632_14633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.56-15_56-14del (SLC25A15)	ENSP00000516711.1:n.56-15_56-14del
ENST00000338625.9:c.56-15_56-14del (SLC25A15) MANE Select	ENSP00000342267.4:n.56-15_56-14del
ENST00000338625.8:c.56-15_56-14del (SLC25A15)	ENSP00000342267.4:n.56-15_56-14del
ENST00000417731.5:c.56-15_56-14del (SLC25A15)	ENSP00000415826.1:n.56-15_56-14del
ENST00000470509.1:c.56-15_56-14del (SLC25A15)	ENSP00000431429.1:n.56-15_56-14del
ENST00000478827.1:n.377-15_377-14del (SLC25A15)
NM_014252.3:c.56-15_56-14del (SLC25A15)	NP_055067.1:n.56-15_56-14del
NR_038258.1:n.2305_2306del (TPTE2P5)
NR_038259.1:n.2134_2135del (TPTE2P5)
NM_014252.4:c.56-15_56-14del (SLC25A15) MANE Select	NP_055067.1:n.56-15_56-14del