Canonical Allele Identifier: CA2245710487
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223156_7223158delinsCCA , CM000679.2:g.7223156_7223158delinsCCA GRCh38
NC_000017.10:g.7126475_7126477delinsCCA , CM000679.1:g.7126475_7126477delinsCCA GRCh37
NC_000017.9:g.7067199_7067201delinsCCA NCBI36
NG_007975.1:g.8323_8325delinsCCA
NG_008391.2:g.1893_1895delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1101_1103delinsCCA MANE Select ENSP00000349297.5:p.Thr367=
ENST00000322910.9:c.*1056_*1058delinsCCA ENSP00000325395.5:n.*1056_*1058delinsCCA
ENST00000350303.9:c.1035_1037delinsCCA ENSP00000344152.5:p.Thr345=
ENST00000356839.9:c.1101_1103delinsCCA ENSP00000349297.5:p.Thr367=
ENST00000543245.6:c.1170_1172delinsCCA ENSP00000438689.2:p.Thr390=
ENST00000578579.2:n.50_52delinsCCA
ENST00000578824.5:n.517_519delinsCCA
ENST00000579425.5:n.125_127delinsCCA
ENST00000582379.1:n.752_754delinsCCA
ENST00000583858.5:c.130_132delinsCCA
ENST00000585203.6:n.309_311delinsCCA
NM_000018.3:c.1101_1103delinsCCA NP_000009.1:p.Thr367=
NM_001033859.2:c.1035_1037delinsCCA NP_001029031.1:p.Thr345=
NM_001270447.1:c.1170_1172delinsCCA NP_001257376.1:p.Thr390=
NM_001270448.1:c.873_875delinsCCA NP_001257377.1:p.Thr291=
XM_006721516.2:c.1101_1103delinsCCA XP_006721579.2:p.Thr367=
XM_011523829.1:c.1101_1103delinsCCA XP_011522131.1:p.Thr367=
XM_011523830.1:c.1101_1103delinsCCA XP_011522132.1:p.Thr367=
XR_934021.1:n.1208_1210delinsCCA
XR_934022.1:n.1208_1210delinsCCA
XR_934023.1:n.1208_1210delinsCCA
XM_006721516.3:c.1101_1103delinsCCA XP_006721579.2:p.Thr367=
XM_011523829.2:c.1101_1103delinsCCA XP_011522131.1:p.Thr367=
XM_011523830.2:c.1101_1103delinsCCA XP_011522132.1:p.Thr367=
XM_024450741.1:c.1101_1103delinsCCA XP_024306509.1:p.Thr367=
XR_934021.2:n.1160_1162delinsCCA
XR_934022.2:n.1160_1162delinsCCA
XR_934023.2:n.1160_1162delinsCCA
NM_000018.4:c.1101_1103delinsCCA MANE Select NP_000009.1:p.Thr367=
NM_001033859.3:c.1035_1037delinsCCA NP_001029031.1:p.Thr345=
NM_001270447.2:c.1170_1172delinsCCA NP_001257376.1:p.Thr390=
NM_001270448.2:c.873_875delinsCCA NP_001257377.1:p.Thr291=