Canonical Allele Identifier: CA2245710736
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071317222

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223247_7223252del , CM000679.2:g.7223247_7223252del GRCh38
NC_000017.10:g.7126566_7126571del , CM000679.1:g.7126566_7126571del GRCh37
NC_000017.9:g.7067290_7067295del NCBI36
NG_007975.1:g.8414_8419del
NG_008391.2:g.1799_1804del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1182+10_1182+15del MANE Select ENSP00000349297.5:n.1182+10_1182+15del
ENST00000322910.9:c.*1137+10_*1137+15del ENSP00000325395.5:n.*1137+10_*1137+15del
ENST00000350303.9:c.1116+10_1116+15del ENSP00000344152.5:n.1116+10_1116+15del
ENST00000356839.9:c.1182+10_1182+15del ENSP00000349297.5:n.1182+10_1182+15del
ENST00000542255.6:c.40+10_40+15del
ENST00000543245.6:c.1251+10_1251+15del ENSP00000438689.2:n.1251+10_1251+15del
ENST00000578579.2:n.131+10_131+15del
ENST00000578824.5:n.598+10_598+15del
ENST00000579425.5:n.206+10_206+15del
ENST00000579546.1:c.19+10_19+15del
ENST00000583858.5:c.211+10_211+15del
ENST00000585203.6:n.390+10_390+15del
NM_000018.3:c.1182+10_1182+15del NP_000009.1:n.1182+10_1182+15del
NM_001033859.2:c.1116+10_1116+15del NP_001029031.1:n.1116+10_1116+15del
NM_001270447.1:c.1251+10_1251+15del NP_001257376.1:n.1251+10_1251+15del
NM_001270448.1:c.954+10_954+15del NP_001257377.1:n.954+10_954+15del
XM_006721516.2:c.1182+10_1182+15del XP_006721579.2:n.1182+10_1182+15del
XM_011523829.1:c.1182+10_1182+15del XP_011522131.1:n.1182+10_1182+15del
XM_011523830.1:c.1182+10_1182+15del XP_011522132.1:n.1182+10_1182+15del
XR_934021.1:n.1289+10_1289+15del
XR_934022.1:n.1289+10_1289+15del
XR_934023.1:n.1289+10_1289+15del
XM_006721516.3:c.1182+10_1182+15del XP_006721579.2:n.1182+10_1182+15del
XM_011523829.2:c.1182+10_1182+15del XP_011522131.1:n.1182+10_1182+15del
XM_011523830.2:c.1182+10_1182+15del XP_011522132.1:n.1182+10_1182+15del
XM_024450741.1:c.1182+10_1182+15del XP_024306509.1:n.1182+10_1182+15del
XR_934021.2:n.1241+10_1241+15del
XR_934022.2:n.1241+10_1241+15del
XR_934023.2:n.1241+10_1241+15del
NM_000018.4:c.1182+10_1182+15del MANE Select NP_000009.1:n.1182+10_1182+15del
NM_001033859.3:c.1116+10_1116+15del NP_001029031.1:n.1116+10_1116+15del
NM_001270447.2:c.1251+10_1251+15del NP_001257376.1:n.1251+10_1251+15del
NM_001270448.2:c.954+10_954+15del NP_001257377.1:n.954+10_954+15del