Canonical Allele Identifier: CA2245709160
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222673_7222676delinsCCCT , CM000679.2:g.7222673_7222676delinsCCCT GRCh38
NC_000017.10:g.7125992_7125995delinsCCCT , CM000679.1:g.7125992_7125995delinsCCCT GRCh37
NC_000017.9:g.7066716_7066719delinsCCCT NCBI36
NG_007975.1:g.7840_7843delinsCCCT
NG_008391.2:g.2375_2378delinsAGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.885_888delinsCCCT MANE Select ENSP00000349297.5:p.Pro295=
ENST00000322910.9:c.*840_*843delinsCCCT ENSP00000325395.5:n.*840_*843delinsCCCT
ENST00000350303.9:c.819_822delinsCCCT ENSP00000344152.5:p.Pro273=
ENST00000356839.9:c.885_888delinsCCCT ENSP00000349297.5:p.Pro295=
ENST00000543245.6:c.954_957delinsCCCT ENSP00000438689.2:p.Pro318=
ENST00000578824.5:n.34_37delinsCCCT
ENST00000581378.5:c.603_606delinsCCCT
ENST00000582379.1:n.269_272delinsCCCT
NM_000018.3:c.885_888delinsCCCT NP_000009.1:p.Pro295=
NM_001033859.2:c.819_822delinsCCCT NP_001029031.1:p.Pro273=
NM_001270447.1:c.954_957delinsCCCT NP_001257376.1:p.Pro318=
NM_001270448.1:c.657_660delinsCCCT NP_001257377.1:p.Pro219=
XM_006721516.2:c.885_888delinsCCCT XP_006721579.2:p.Pro295=
XM_011523829.1:c.885_888delinsCCCT XP_011522131.1:p.Pro295=
XM_011523830.1:c.885_888delinsCCCT XP_011522132.1:p.Pro295=
XR_934021.1:n.992_995delinsCCCT
XR_934022.1:n.992_995delinsCCCT
XR_934023.1:n.992_995delinsCCCT
XM_006721516.3:c.885_888delinsCCCT XP_006721579.2:p.Pro295=
XM_011523829.2:c.885_888delinsCCCT XP_011522131.1:p.Pro295=
XM_011523830.2:c.885_888delinsCCCT XP_011522132.1:p.Pro295=
XM_024450741.1:c.885_888delinsCCCT XP_024306509.1:p.Pro295=
XR_934021.2:n.944_947delinsCCCT
XR_934022.2:n.944_947delinsCCCT
XR_934023.2:n.944_947delinsCCCT
NM_000018.4:c.885_888delinsCCCT MANE Select NP_000009.1:p.Pro295=
NM_001033859.3:c.819_822delinsCCCT NP_001029031.1:p.Pro273=
NM_001270447.2:c.954_957delinsCCCT NP_001257376.1:p.Pro318=
NM_001270448.2:c.657_660delinsCCCT NP_001257377.1:p.Pro219=