Canonical Allele Identifier: CA305208312
Community Standard Title: NM_001397406.1(FDX2):c.307+69del
Gene: FDX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10315319del , CM000681.2:g.10315319del GRCh38
NC_000019.9:g.10425995del , CM000681.1:g.10425995del GRCh37
NC_000019.8:g.10286995del NCBI36
NG_034259.1:g.5699del

Transcript Alleles

HGVS Amino-acid Change
NM_001397406.1:c.307+69del MANE Select NP_001384335.1:n.307+69del
ENST00000393708.3:c.316+69del MANE Select ENSP00000377311.4:n.316+69del
NM_001031734.3:c.316+69del NP_001026904.2:n.316+69del
NM_001031734.4:c.316+69del NP_001026904.2:n.316+69del
ENST00000343376.8:n.416+69del
ENST00000452032.6:c.316+69del ENSP00000408510.2:n.316+69del
ENST00000453681.1:n.413+69del
ENST00000460631.5:n.519+69del
ENST00000492239.5:c.-99+69del ENSP00000488228.1:n.-99+69del
ENST00000493771.2:n.171+69del
ENST00000494368.5:c.-99+69del ENSP00000467188.1:n.-99+69del
ENST00000706663.1:c.51+629del ENSP00000516489.1:n.51+629del