Canonical Allele Identifier: CA1139665148
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 932851
ClinVar RCV Id: RCV001200808
dbSNP Id: rs2071337202

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223654_7223655insGCA , CM000679.2:g.7223654_7223655insGCA GRCh38
NC_000017.10:g.7126973_7126974insGCA , CM000679.1:g.7126973_7126974insGCA GRCh37
NC_000017.9:g.7067697_7067698insGCA NCBI36
NG_007975.1:g.8821_8822insGCA
NG_008391.2:g.1397_1398insGCT
NG_033038.1:g.15891_15892insGCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1193_1194insGCA MANE Select ENSP00000349297.5:p.Tyr398Ter
ENST00000322910.9:c.*1148_*1149insGCA ENSP00000325395.5:n.*1148_*1149insGCA
ENST00000350303.9:c.1127_1128insGCA ENSP00000344152.5:p.Tyr376Ter
ENST00000356839.9:c.1193_1194insGCA ENSP00000349297.5:p.Tyr398Ter
ENST00000542255.6:c.51_52insGCA
ENST00000543245.6:c.1262_1263insGCA ENSP00000438689.2:p.Tyr421Ter
ENST00000578579.2:n.364_365insGCA
ENST00000578711.1:n.150_151insGCA
ENST00000578824.5:n.609_610insGCA
ENST00000579425.5:n.217_218insGCA
ENST00000579546.1:c.30_31insGCA
ENST00000583858.5:c.222_223insGCA
ENST00000585203.6:n.401_402insGCA
NM_000018.3:c.1193_1194insGCA NP_000009.1:p.Tyr398Ter
NM_001033859.2:c.1127_1128insGCA NP_001029031.1:p.Tyr376Ter
NM_001270447.1:c.1262_1263insGCA NP_001257376.1:p.Tyr421Ter
NM_001270448.1:c.965_966insGCA NP_001257377.1:p.Tyr322Ter
XM_006721516.2:c.1193_1194insGCA XP_006721579.2:p.Tyr398Ter
XM_011523829.1:c.1193_1194insGCA XP_011522131.1:p.Tyr398Ter
XM_011523830.1:c.1193_1194insGCA XP_011522132.1:p.Tyr398Ter
XR_934021.1:n.1300_1301insGCA
XR_934022.1:n.1300_1301insGCA
XR_934023.1:n.1300_1301insGCA
XM_006721516.3:c.1193_1194insGCA XP_006721579.2:p.Tyr398Ter
XM_011523829.2:c.1193_1194insGCA XP_011522131.1:p.Tyr398Ter
XM_011523830.2:c.1193_1194insGCA XP_011522132.1:p.Tyr398Ter
XM_024450741.1:c.1193_1194insGCA XP_024306509.1:p.Tyr398Ter
XR_934021.2:n.1252_1253insGCA
XR_934022.2:n.1252_1253insGCA
XR_934023.2:n.1252_1253insGCA
NM_000018.4:c.1193_1194insGCA MANE Select NP_000009.1:p.Tyr398Ter
NM_001033859.3:c.1127_1128insGCA NP_001029031.1:p.Tyr376Ter
NM_001270447.2:c.1262_1263insGCA NP_001257376.1:p.Tyr421Ter
NM_001270448.2:c.965_966insGCA NP_001257377.1:p.Tyr322Ter