Canonical Allele Identifier: CA2635783086
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222718-GTTC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222721_7222723del , CM000679.2:g.7222721_7222723del GRCh38
NC_000017.10:g.7126040_7126042del , CM000679.1:g.7126040_7126042del GRCh37
NC_000017.9:g.7066764_7066766del NCBI36
NG_007975.1:g.7888_7890del
NG_008391.2:g.2330_2332del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.933_935del MANE Select ENSP00000349297.5:p.Phe312del
ENST00000322910.9:c.*888_*890del ENSP00000325395.5:n.*888_*890del
ENST00000350303.9:c.867_869del ENSP00000344152.5:p.Phe290del
ENST00000356839.9:c.933_935del ENSP00000349297.5:p.Phe312del
ENST00000543245.6:c.1002_1004del ENSP00000438689.2:p.Phe335del
ENST00000578824.5:n.82_84del
ENST00000581378.5:c.651_653del
ENST00000582379.1:n.317_319del
NM_000018.3:c.933_935del NP_000009.1:p.Phe312del
NM_001033859.2:c.867_869del NP_001029031.1:p.Phe290del
NM_001270447.1:c.1002_1004del NP_001257376.1:p.Phe335del
NM_001270448.1:c.705_707del NP_001257377.1:p.Phe236del
XM_006721516.2:c.933_935del XP_006721579.2:p.Phe312del
XM_011523829.1:c.933_935del XP_011522131.1:p.Phe312del
XM_011523830.1:c.933_935del XP_011522132.1:p.Phe312del
XR_934021.1:n.1040_1042del
XR_934022.1:n.1040_1042del
XR_934023.1:n.1040_1042del
XM_006721516.3:c.933_935del XP_006721579.2:p.Phe312del
XM_011523829.2:c.933_935del XP_011522131.1:p.Phe312del
XM_011523830.2:c.933_935del XP_011522132.1:p.Phe312del
XM_024450741.1:c.933_935del XP_024306509.1:p.Phe312del
XR_934021.2:n.992_994del
XR_934022.2:n.992_994del
XR_934023.2:n.992_994del
NM_000018.4:c.933_935del MANE Select NP_000009.1:p.Phe312del
NM_001033859.3:c.867_869del NP_001029031.1:p.Phe290del
NM_001270447.2:c.1002_1004del NP_001257376.1:p.Phe335del
NM_001270448.2:c.705_707del NP_001257377.1:p.Phe236del
Search 100 bp 5'
Search 100 bp 3'