Canonical Allele Identifier: CA631614037
Community Standard Title: NM_004793.4(LONP1):c.1367+313_1367+314del
Gene: LONP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.5705476_5705477del , CM000681.2:g.5705476_5705477del GRCh38
NC_000019.9:g.5705487_5705488del , CM000681.1:g.5705487_5705488del GRCh37
NC_000019.8:g.5656487_5656488del NCBI36
NG_033142.1:g.19994_19995del

Transcript Alleles

HGVS Amino-acid Change
NM_004793.4:c.1367+313_1367+314del MANE Select NP_004784.2:n.1367+313_1367+314del
ENST00000360614.8:c.1367+313_1367+314del MANE Select ENSP00000353826.2:n.1367+313_1367+314del
NM_001276479.1:c.1175+313_1175+314del NP_001263408.1:n.1175+313_1175+314del
NM_001276479.2:c.1175+313_1175+314del NP_001263408.1:n.1175+313_1175+314del
NM_001276480.1:c.779+313_779+314del NP_001263409.1:n.779+313_779+314del
NM_004793.3:c.1367+313_1367+314del NP_004784.2:n.1367+313_1367+314del
NR_076392.1:n.1191+313_1191+314del
NR_076392.2:n.1172+313_1172+314del
ENST00000360614.7:c.1367+313_1367+314del ENSP00000353826.2:n.1367+313_1367+314del
ENST00000540670.6:c.779+313_779+314del ENSP00000441523.1:n.779+313_779+314del
ENST00000585374.5:c.1025+313_1025+314del ENSP00000465585.1:n.1025+313_1025+314del
ENST00000587365.1:c.611+313_611+314del ENSP00000468114.1:n.611+313_611+314del
ENST00000587552.5:n.807+313_807+314del
ENST00000588589.5:n.641+313_641+314del
ENST00000590206.1:c.336+313_336+314del
ENST00000590558.5:c.1174+313_1174+314del ENSP00000467808.1:n.1174+313_1174+314del
ENST00000590729.5:c.977+313_977+314del ENSP00000465139.1:n.977+313_977+314del
ENST00000593119.5:c.1175+313_1175+314del ENSP00000468541.1:n.1175+313_1175+314del
XM_011528441.1:c.1367+313_1367+314del XP_011526743.1:n.1367+313_1367+314del
XM_011528441.3:c.1367+313_1367+314del XP_011526743.1:n.1367+313_1367+314del