Canonical Allele Identifier: CA774743703
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1270814994
gnomAD v3: 17-7222915-TC-T
gnomAD v4: 17-7222915-TC-T
MyVariant Identifiers: chr17:g.7126235del (hg19) chr17:g.7222916del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222920del , CM000679.2:g.7222920del GRCh38
NC_000017.10:g.7126239del , CM000679.1:g.7126239del GRCh37
NC_000017.9:g.7066963del NCBI36
NG_007975.1:g.8087del
NG_008391.2:g.2135del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1077+55del MANE Select ENSP00000349297.5:n.1077+55del
ENST00000322910.9:c.*1032+55del ENSP00000325395.5:n.*1032+55del
ENST00000350303.9:c.1011+55del ENSP00000344152.5:n.1011+55del
ENST00000356839.9:c.1077+55del ENSP00000349297.5:n.1077+55del
ENST00000543245.6:c.1146+55del ENSP00000438689.2:n.1146+55del
ENST00000578824.5:n.281del
ENST00000582379.1:n.516del
ENST00000583858.5:c.106+55del
ENST00000585203.6:n.73del
NM_000018.3:c.1077+55del NP_000009.1:n.1077+55del
NM_001033859.2:c.1011+55del NP_001029031.1:n.1011+55del
NM_001270447.1:c.1146+55del NP_001257376.1:n.1146+55del
NM_001270448.1:c.849+55del NP_001257377.1:n.849+55del
XM_006721516.2:c.1077+55del XP_006721579.2:n.1077+55del
XM_011523829.1:c.1077+55del XP_011522131.1:n.1077+55del
XM_011523830.1:c.1077+55del XP_011522132.1:n.1077+55del
XR_934021.1:n.1184+55del
XR_934022.1:n.1184+55del
XR_934023.1:n.1184+55del
XM_006721516.3:c.1077+55del XP_006721579.2:n.1077+55del
XM_011523829.2:c.1077+55del XP_011522131.1:n.1077+55del
XM_011523830.2:c.1077+55del XP_011522132.1:n.1077+55del
XM_024450741.1:c.1077+55del XP_024306509.1:n.1077+55del
XR_934021.2:n.1136+55del
XR_934022.2:n.1136+55del
XR_934023.2:n.1136+55del
NM_000018.4:c.1077+55del MANE Select NP_000009.1:n.1077+55del
NM_001033859.3:c.1011+55del NP_001029031.1:n.1011+55del
NM_001270447.2:c.1146+55del NP_001257376.1:n.1146+55del
NM_001270448.2:c.849+55del NP_001257377.1:n.849+55del
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