Canonical Allele Identifier: CA295875895
Community Standard Title: NM_021074.5(NDUFV2):c.579+322_579+324del
Gene: NDUFV2 HGNC NCBI
NDUFV2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.9125305_9125307del , CM000680.2:g.9125305_9125307del GRCh38
NC_000018.9:g.9125303_9125305del , CM000680.1:g.9125303_9125305del GRCh37
NC_000018.8:g.9115303_9115305del NCBI36
NG_013355.1:g.27676_27678del

Transcript Alleles

HGVS Amino-acid Change
NM_021074.5:c.579+322_579+324del (NDUFV2) MANE Select NP_066552.2:n.579+322_579+324del
ENST00000318388.11:c.579+322_579+324del (NDUFV2) MANE Select ENSP00000327268.6:n.579+322_579+324del
NM_021074.4:c.579+322_579+324del (NDUFV2) NP_066552.2:n.579+322_579+324del
NR_110771.1:n.654-3837_654-3835del (NDUFV2-AS1)
NR_110772.1:n.478-3837_478-3835del (NDUFV2-AS1)
ENST00000318388.10:c.579+322_579+324del (NDUFV2) ENSP00000327268.6:n.579+322_579+324del
ENST00000400033.1:c.588+322_588+324del (NDUFV2) ENSP00000382908.1:n.588+322_588+324del
ENST00000465096.5:n.410+309_410+311del (NDUFV2)
XM_017025782.1:c.492+322_492+324del (NDUFV2) XP_016881271.1:n.492+322_492+324del
XR_002958175.1:n.2873+322_2873+324del (NDUFV2)
XR_243808.1:n.694+309_694+311del (NDUFV2)
XR_243808.3:n.609+309_609+311del (NDUFV2)