Canonical Allele Identifier: CA2245701350
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222220_7222222delinsCCA , CM000679.2:g.7222220_7222222delinsCCA GRCh38
NC_000017.10:g.7125539_7125541delinsCCA , CM000679.1:g.7125539_7125541delinsCCA GRCh37
NC_000017.9:g.7066263_7066265delinsCCA NCBI36
NG_007975.1:g.7387_7389delinsCCA
NG_008391.2:g.2829_2831delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.796_798delinsCCA MANE Select ENSP00000349297.5:p.Pro266=
ENST00000322910.9:c.*751_*753delinsCCA ENSP00000325395.5:n.*751_*753delinsCCA
ENST00000350303.9:c.730_732delinsCCA ENSP00000344152.5:p.Pro244=
ENST00000356839.9:c.796_798delinsCCA ENSP00000349297.5:p.Pro266=
ENST00000543245.6:c.865_867delinsCCA ENSP00000438689.2:p.Pro289=
ENST00000577191.5:n.968_970delinsCCA
ENST00000581378.5:c.514_516delinsCCA
ENST00000582379.1:n.180_182delinsCCA
NM_000018.3:c.796_798delinsCCA NP_000009.1:p.Pro266=
NM_001033859.2:c.730_732delinsCCA NP_001029031.1:p.Pro244=
NM_001270447.1:c.865_867delinsCCA NP_001257376.1:p.Pro289=
NM_001270448.1:c.568_570delinsCCA NP_001257377.1:p.Pro190=
XM_006721516.2:c.796_798delinsCCA XP_006721579.2:p.Pro266=
XM_011523829.1:c.796_798delinsCCA XP_011522131.1:p.Pro266=
XM_011523830.1:c.796_798delinsCCA XP_011522132.1:p.Pro266=
XR_934021.1:n.903_905delinsCCA
XR_934022.1:n.903_905delinsCCA
XR_934023.1:n.903_905delinsCCA
XM_006721516.3:c.796_798delinsCCA XP_006721579.2:p.Pro266=
XM_011523829.2:c.796_798delinsCCA XP_011522131.1:p.Pro266=
XM_011523830.2:c.796_798delinsCCA XP_011522132.1:p.Pro266=
XM_024450741.1:c.796_798delinsCCA XP_024306509.1:p.Pro266=
XR_934021.2:n.855_857delinsCCA
XR_934022.2:n.855_857delinsCCA
XR_934023.2:n.855_857delinsCCA
NM_000018.4:c.796_798delinsCCA MANE Select NP_000009.1:p.Pro266=
NM_001033859.3:c.730_732delinsCCA NP_001029031.1:p.Pro244=
NM_001270447.2:c.865_867delinsCCA NP_001257376.1:p.Pro289=
NM_001270448.2:c.568_570delinsCCA NP_001257377.1:p.Pro190=