Canonical Allele Identifier: CA2245697949
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220296_7220313delinsTACTGCTCAGTCGCCGAA , CM000679.2:g.7220296_7220313delinsTACTGCTCAGTCGCCGAA GRCh38
NC_000017.10:g.7123615_7123632delinsTACTGCTCAGTCGCCGAA , CM000679.1:g.7123615_7123632delinsTACTGCTCAGTCGCCGAA GRCh37
NC_000017.9:g.7064339_7064356delinsTACTGCTCAGTCGCCGAA NCBI36
NG_007975.1:g.5463_5480delinsTACTGCTCAGTCGCCGAA
NG_008391.2:g.4738_4755delinsTTCGGCGACTGAGCAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA MANE Select ENSP00000349297.5:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
ENST00000322910.9:c.*93+99_*93+116delinsTACTGCTCAGTCGCCGAA ENSP00000325395.5:n.*93+99_*93+116delinsTACTGCTCAGTCGCCGAA
ENST00000350303.9:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA ENSP00000344152.5:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
ENST00000356839.9:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA ENSP00000349297.5:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
ENST00000543245.6:c.207+99_207+116delinsTACTGCTCAGTCGCCGAA ENSP00000438689.2:n.207+99_207+116delinsTACTGCTCAGTCGCCGAA
ENST00000577191.5:n.215+99_215+116delinsTACTGCTCAGTCGCCGAA
ENST00000577433.5:n.105_122delinsTACTGCTCAGTCGCCGAA
ENST00000577857.5:n.228+99_228+116delinsTACTGCTCAGTCGCCGAA
ENST00000578269.5:n.344_361delinsTACTGCTCAGTCGCCGAA
ENST00000578421.1:n.272+99_272+116delinsTACTGCTCAGTCGCCGAA
ENST00000579286.5:n.245+99_245+116delinsTACTGCTCAGTCGCCGAA
ENST00000579886.2:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA ENSP00000463246.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
ENST00000580263.5:n.228+99_228+116delinsTACTGCTCAGTCGCCGAA
ENST00000581562.5:n.185+99_185+116delinsTACTGCTCAGTCGCCGAA
ENST00000582056.5:n.228+99_228+116delinsTACTGCTCAGTCGCCGAA
ENST00000582356.5:n.263+99_263+116delinsTACTGCTCAGTCGCCGAA
ENST00000583312.5:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA ENSP00000467920.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
ENST00000584103.5:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA ENSP00000465353.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
NM_000018.3:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA NP_000009.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
NM_001033859.2:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA NP_001029031.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
NM_001270447.1:c.207+99_207+116delinsTACTGCTCAGTCGCCGAA NP_001257376.1:n.207+99_207+116delinsTACTGCTCAGTCGCCGAA
NM_001270448.1:c.-91+99_-91+116delinsTACTGCTCAGTCGCCGAA NP_001257377.1:n.-91+99_-91+116delinsTACTGCTCAGTCGCCGAA
XM_006721516.2:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_006721579.2:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XM_011523829.1:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_011522131.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XM_011523830.1:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_011522132.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XR_934021.1:n.245+99_245+116delinsTACTGCTCAGTCGCCGAA
XR_934022.1:n.245+99_245+116delinsTACTGCTCAGTCGCCGAA
XR_934023.1:n.245+99_245+116delinsTACTGCTCAGTCGCCGAA
XM_006721516.3:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_006721579.2:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XM_011523829.2:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_011522131.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XM_011523830.2:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_011522132.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XM_024450741.1:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA XP_024306509.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
XR_934021.2:n.197+99_197+116delinsTACTGCTCAGTCGCCGAA
XR_934022.2:n.197+99_197+116delinsTACTGCTCAGTCGCCGAA
XR_934023.2:n.197+99_197+116delinsTACTGCTCAGTCGCCGAA
NM_000018.4:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA MANE Select NP_000009.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
NM_001033859.3:c.138+99_138+116delinsTACTGCTCAGTCGCCGAA NP_001029031.1:n.138+99_138+116delinsTACTGCTCAGTCGCCGAA
NM_001270447.2:c.207+99_207+116delinsTACTGCTCAGTCGCCGAA NP_001257376.1:n.207+99_207+116delinsTACTGCTCAGTCGCCGAA
NM_001270448.2:c.-91+99_-91+116delinsTACTGCTCAGTCGCCGAA NP_001257377.1:n.-91+99_-91+116delinsTACTGCTCAGTCGCCGAA