Canonical Allele Identifier: CA2635781779
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222020-TCTG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222024_7222026del , CM000679.2:g.7222024_7222026del GRCh38
NC_000017.10:g.7125343_7125345del , CM000679.1:g.7125343_7125345del GRCh37
NC_000017.9:g.7066067_7066069del NCBI36
NG_007975.1:g.7191_7193del
NG_008391.2:g.3028_3030del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.695_697del MANE Select ENSP00000349297.5:p.Ala232del
ENST00000322910.9:c.*650_*652del ENSP00000325395.5:n.*650_*652del
ENST00000350303.9:c.629_631del ENSP00000344152.5:p.Ala210del
ENST00000356839.9:c.695_697del ENSP00000349297.5:p.Ala232del
ENST00000543245.6:c.764_766del ENSP00000438689.2:p.Ala255del
ENST00000577191.5:n.772_774del
ENST00000577857.5:n.511_513del
ENST00000579286.5:n.876_878del
ENST00000580365.1:n.426_428del
ENST00000581378.5:c.413_415del
ENST00000582379.1:n.79_81del
ENST00000583760.1:n.477_479del
NM_000018.3:c.695_697del NP_000009.1:p.Ala232del
NM_001033859.2:c.629_631del NP_001029031.1:p.Ala210del
NM_001270447.1:c.764_766del NP_001257376.1:p.Ala255del
NM_001270448.1:c.467_469del NP_001257377.1:p.Ala156del
XM_006721516.2:c.695_697del XP_006721579.2:p.Ala232del
XM_011523829.1:c.695_697del XP_011522131.1:p.Ala232del
XM_011523830.1:c.695_697del XP_011522132.1:p.Ala232del
XR_934021.1:n.802_804del
XR_934022.1:n.802_804del
XR_934023.1:n.802_804del
XM_006721516.3:c.695_697del XP_006721579.2:p.Ala232del
XM_011523829.2:c.695_697del XP_011522131.1:p.Ala232del
XM_011523830.2:c.695_697del XP_011522132.1:p.Ala232del
XM_024450741.1:c.695_697del XP_024306509.1:p.Ala232del
XR_934021.2:n.754_756del
XR_934022.2:n.754_756del
XR_934023.2:n.754_756del
NM_000018.4:c.695_697del MANE Select NP_000009.1:p.Ala232del
NM_001033859.3:c.629_631del NP_001029031.1:p.Ala210del
NM_001270447.2:c.764_766del NP_001257376.1:p.Ala255del
NM_001270448.2:c.467_469del NP_001257377.1:p.Ala156del
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