Canonical Allele Identifier: CA2635781825
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223393_7223394del , CM000679.2:g.7223393_7223394del GRCh38
NC_000017.10:g.7126712_7126713del , CM000679.1:g.7126712_7126713del GRCh37
NC_000017.9:g.7067436_7067437del NCBI36
NG_007975.1:g.8560_8561del
NG_008391.2:g.1657_1658del
NG_033038.1:g.16151_16152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1182+156_1182+157del MANE Select ENSP00000349297.5:n.1182+156_1182+157del
ENST00000322910.9:c.*1137+156_*1137+157del ENSP00000325395.5:n.*1137+156_*1137+157del
ENST00000350303.9:c.1116+156_1116+157del ENSP00000344152.5:n.1116+156_1116+157del
ENST00000356839.9:c.1182+156_1182+157del ENSP00000349297.5:n.1182+156_1182+157del
ENST00000542255.6:c.40+156_40+157del
ENST00000543245.6:c.1251+156_1251+157del ENSP00000438689.2:n.1251+156_1251+157del
ENST00000578579.2:n.132-29_132-28del
ENST00000578824.5:n.598+156_598+157del
ENST00000579425.5:n.206+156_206+157del
ENST00000579546.1:c.19+156_19+157del
ENST00000583858.5:c.211+156_211+157del
ENST00000585203.6:n.390+156_390+157del
NM_000018.3:c.1182+156_1182+157del NP_000009.1:n.1182+156_1182+157del
NM_001033859.2:c.1116+156_1116+157del NP_001029031.1:n.1116+156_1116+157del
NM_001270447.1:c.1251+156_1251+157del NP_001257376.1:n.1251+156_1251+157del
NM_001270448.1:c.954+156_954+157del NP_001257377.1:n.954+156_954+157del
XM_006721516.2:c.1182+156_1182+157del XP_006721579.2:n.1182+156_1182+157del
XM_011523829.1:c.1182+156_1182+157del XP_011522131.1:n.1182+156_1182+157del
XM_011523830.1:c.1182+156_1182+157del XP_011522132.1:n.1182+156_1182+157del
XR_934021.1:n.1289+156_1289+157del
XR_934022.1:n.1289+156_1289+157del
XR_934023.1:n.1289+156_1289+157del
XM_006721516.3:c.1182+156_1182+157del XP_006721579.2:n.1182+156_1182+157del
XM_011523829.2:c.1182+156_1182+157del XP_011522131.1:n.1182+156_1182+157del
XM_011523830.2:c.1182+156_1182+157del XP_011522132.1:n.1182+156_1182+157del
XM_024450741.1:c.1182+156_1182+157del XP_024306509.1:n.1182+156_1182+157del
XR_934021.2:n.1241+156_1241+157del
XR_934022.2:n.1241+156_1241+157del
XR_934023.2:n.1241+156_1241+157del
NM_000018.4:c.1182+156_1182+157del MANE Select NP_000009.1:n.1182+156_1182+157del
NM_001033859.3:c.1116+156_1116+157del NP_001029031.1:n.1116+156_1116+157del
NM_001270447.2:c.1251+156_1251+157del NP_001257376.1:n.1251+156_1251+157del
NM_001270448.2:c.954+156_954+157del NP_001257377.1:n.954+156_954+157del