Canonical Allele Identifier: CA2245709183
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222676_7222679delinsTGAG , CM000679.2:g.7222676_7222679delinsTGAG GRCh38
NC_000017.10:g.7125995_7125998delinsTGAG , CM000679.1:g.7125995_7125998delinsTGAG GRCh37
NC_000017.9:g.7066719_7066722delinsTGAG NCBI36
NG_007975.1:g.7843_7846delinsTGAG
NG_008391.2:g.2372_2375delinsCTCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.888_891delinsTGAG MANE Select ENSP00000349297.5:p.Pro296=
ENST00000322910.9:c.*843_*846delinsTGAG ENSP00000325395.5:n.*843_*846delinsTGAG
ENST00000350303.9:c.822_825delinsTGAG ENSP00000344152.5:p.Pro274=
ENST00000356839.9:c.888_891delinsTGAG ENSP00000349297.5:p.Pro296=
ENST00000543245.6:c.957_960delinsTGAG ENSP00000438689.2:p.Pro319=
ENST00000578824.5:n.37_40delinsTGAG
ENST00000581378.5:c.606_609delinsTGAG
ENST00000582379.1:n.272_275delinsTGAG
NM_000018.3:c.888_891delinsTGAG NP_000009.1:p.Pro296=
NM_001033859.2:c.822_825delinsTGAG NP_001029031.1:p.Pro274=
NM_001270447.1:c.957_960delinsTGAG NP_001257376.1:p.Pro319=
NM_001270448.1:c.660_663delinsTGAG NP_001257377.1:p.Pro220=
XM_006721516.2:c.888_891delinsTGAG XP_006721579.2:p.Pro296=
XM_011523829.1:c.888_891delinsTGAG XP_011522131.1:p.Pro296=
XM_011523830.1:c.888_891delinsTGAG XP_011522132.1:p.Pro296=
XR_934021.1:n.995_998delinsTGAG
XR_934022.1:n.995_998delinsTGAG
XR_934023.1:n.995_998delinsTGAG
XM_006721516.3:c.888_891delinsTGAG XP_006721579.2:p.Pro296=
XM_011523829.2:c.888_891delinsTGAG XP_011522131.1:p.Pro296=
XM_011523830.2:c.888_891delinsTGAG XP_011522132.1:p.Pro296=
XM_024450741.1:c.888_891delinsTGAG XP_024306509.1:p.Pro296=
XR_934021.2:n.947_950delinsTGAG
XR_934022.2:n.947_950delinsTGAG
XR_934023.2:n.947_950delinsTGAG
NM_000018.4:c.888_891delinsTGAG MANE Select NP_000009.1:p.Pro296=
NM_001033859.3:c.822_825delinsTGAG NP_001029031.1:p.Pro274=
NM_001270447.2:c.957_960delinsTGAG NP_001257376.1:p.Pro319=
NM_001270448.2:c.660_663delinsTGAG NP_001257377.1:p.Pro220=