Canonical Allele Identifier: CA2635782282
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222337_7222338del , CM000679.2:g.7222337_7222338del GRCh38
NC_000017.10:g.7125656_7125657del , CM000679.1:g.7125656_7125657del GRCh37
NC_000017.9:g.7066380_7066381del NCBI36
NG_007975.1:g.7504_7505del
NG_008391.2:g.2714_2715del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+35_878+36del MANE Select ENSP00000349297.5:n.878+35_878+36del
ENST00000322910.9:c.*833+35_*833+36del ENSP00000325395.5:n.*833+35_*833+36del
ENST00000350303.9:c.812+35_812+36del ENSP00000344152.5:n.812+35_812+36del
ENST00000356839.9:c.878+35_878+36del ENSP00000349297.5:n.878+35_878+36del
ENST00000543245.6:c.947+35_947+36del ENSP00000438689.2:n.947+35_947+36del
ENST00000577191.5:n.1085_1086del
ENST00000581378.5:c.596+35_596+36del
ENST00000582379.1:n.262+35_262+36del
NM_000018.3:c.878+35_878+36del NP_000009.1:n.878+35_878+36del
NM_001033859.2:c.812+35_812+36del NP_001029031.1:n.812+35_812+36del
NM_001270447.1:c.947+35_947+36del NP_001257376.1:n.947+35_947+36del
NM_001270448.1:c.650+35_650+36del NP_001257377.1:n.650+35_650+36del
XM_006721516.2:c.878+35_878+36del XP_006721579.2:n.878+35_878+36del
XM_011523829.1:c.878+35_878+36del XP_011522131.1:n.878+35_878+36del
XM_011523830.1:c.878+35_878+36del XP_011522132.1:n.878+35_878+36del
XR_934021.1:n.985+35_985+36del
XR_934022.1:n.985+35_985+36del
XR_934023.1:n.985+35_985+36del
XM_006721516.3:c.878+35_878+36del XP_006721579.2:n.878+35_878+36del
XM_011523829.2:c.878+35_878+36del XP_011522131.1:n.878+35_878+36del
XM_011523830.2:c.878+35_878+36del XP_011522132.1:n.878+35_878+36del
XM_024450741.1:c.878+35_878+36del XP_024306509.1:n.878+35_878+36del
XR_934021.2:n.937+35_937+36del
XR_934022.2:n.937+35_937+36del
XR_934023.2:n.937+35_937+36del
NM_000018.4:c.878+35_878+36del MANE Select NP_000009.1:n.878+35_878+36del
NM_001033859.3:c.812+35_812+36del NP_001029031.1:n.812+35_812+36del
NM_001270447.2:c.947+35_947+36del NP_001257376.1:n.947+35_947+36del
NM_001270448.2:c.650+35_650+36del NP_001257377.1:n.650+35_650+36del