Canonical Allele Identifier: CA1139533033
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222686_7222688del , CM000679.2:g.7222686_7222688del GRCh38
NC_000017.10:g.7126005_7126007del , CM000679.1:g.7126005_7126007del GRCh37
NC_000017.9:g.7066729_7066731del NCBI36
NG_007975.1:g.7853_7855del
NG_008391.2:g.2364_2366del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.898_900del MANE Select ENSP00000349297.5:p.Met300del
ENST00000322910.9:c.*853_*855del ENSP00000325395.5:n.*853_*855del
ENST00000350303.9:c.832_834del ENSP00000344152.5:p.Met278del
ENST00000356839.9:c.898_900del ENSP00000349297.5:p.Met300del
ENST00000543245.6:c.967_969del ENSP00000438689.2:p.Met323del
ENST00000578824.5:n.47_49del
ENST00000581378.5:c.616_618del
ENST00000582379.1:n.282_284del
NM_000018.3:c.898_900del NP_000009.1:p.Met300del
NM_001033859.2:c.832_834del NP_001029031.1:p.Met278del
NM_001270447.1:c.967_969del NP_001257376.1:p.Met323del
NM_001270448.1:c.670_672del NP_001257377.1:p.Met224del
XM_006721516.2:c.898_900del XP_006721579.2:p.Met300del
XM_011523829.1:c.898_900del XP_011522131.1:p.Met300del
XM_011523830.1:c.898_900del XP_011522132.1:p.Met300del
XR_934021.1:n.1005_1007del
XR_934022.1:n.1005_1007del
XR_934023.1:n.1005_1007del
XM_006721516.3:c.898_900del XP_006721579.2:p.Met300del
XM_011523829.2:c.898_900del XP_011522131.1:p.Met300del
XM_011523830.2:c.898_900del XP_011522132.1:p.Met300del
XM_024450741.1:c.898_900del XP_024306509.1:p.Met300del
XR_934021.2:n.957_959del
XR_934022.2:n.957_959del
XR_934023.2:n.957_959del
NM_000018.4:c.898_900del MANE Select NP_000009.1:p.Met300del
NM_001033859.3:c.832_834del NP_001029031.1:p.Met278del
NM_001270447.2:c.967_969del NP_001257376.1:p.Met323del
NM_001270448.2:c.670_672del NP_001257377.1:p.Met224del
Search 100 bp 5'
Search 100 bp 3'