Canonical Allele Identifier: CA2635782511
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222463-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222465del , CM000679.2:g.7222465del GRCh38
NC_000017.10:g.7125784del , CM000679.1:g.7125784del GRCh37
NC_000017.9:g.7066508del NCBI36
NG_007975.1:g.7632del
NG_008391.2:g.2587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+163del MANE Select ENSP00000349297.5:n.878+163del
ENST00000322910.9:c.*833+163del ENSP00000325395.5:n.*833+163del
ENST00000350303.9:c.812+163del ENSP00000344152.5:n.812+163del
ENST00000356839.9:c.878+163del ENSP00000349297.5:n.878+163del
ENST00000543245.6:c.947+163del ENSP00000438689.2:n.947+163del
ENST00000581378.5:c.596+163del
ENST00000582379.1:n.262+163del
NM_000018.3:c.878+163del NP_000009.1:n.878+163del
NM_001033859.2:c.812+163del NP_001029031.1:n.812+163del
NM_001270447.1:c.947+163del NP_001257376.1:n.947+163del
NM_001270448.1:c.650+163del NP_001257377.1:n.650+163del
XM_006721516.2:c.878+163del XP_006721579.2:n.878+163del
XM_011523829.1:c.878+163del XP_011522131.1:n.878+163del
XM_011523830.1:c.878+163del XP_011522132.1:n.878+163del
XR_934021.1:n.985+163del
XR_934022.1:n.985+163del
XR_934023.1:n.985+163del
XM_006721516.3:c.878+163del XP_006721579.2:n.878+163del
XM_011523829.2:c.878+163del XP_011522131.1:n.878+163del
XM_011523830.2:c.878+163del XP_011522132.1:n.878+163del
XM_024450741.1:c.878+163del XP_024306509.1:n.878+163del
XR_934021.2:n.937+163del
XR_934022.2:n.937+163del
XR_934023.2:n.937+163del
NM_000018.4:c.878+163del MANE Select NP_000009.1:n.878+163del
NM_001033859.3:c.812+163del NP_001029031.1:n.812+163del
NM_001270447.2:c.947+163del NP_001257376.1:n.947+163del
NM_001270448.2:c.650+163del NP_001257377.1:n.650+163del
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