Canonical Allele Identifier: CA913013625
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220648_7220650del , CM000679.2:g.7220648_7220650del GRCh38
NC_000017.10:g.7123967_7123969del , CM000679.1:g.7123967_7123969del GRCh37
NC_000017.9:g.7064691_7064693del NCBI36
NG_007975.1:g.5815_5817del
NG_008391.2:g.4404_4406del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.249_251del MANE Select ENSP00000349297.5:p.Thr84del
ENST00000322910.9:c.*204_*206del ENSP00000325395.5:n.*204_*206del
ENST00000350303.9:c.183_185del ENSP00000344152.5:p.Thr62del
ENST00000356839.9:c.249_251del ENSP00000349297.5:p.Thr84del
ENST00000543245.6:c.318_320del ENSP00000438689.2:p.Thr107del
ENST00000577191.5:n.326_328del
ENST00000577433.5:n.457_459del
ENST00000577857.5:n.229-118_229-116del
ENST00000578269.5:n.696_698del
ENST00000578421.1:n.457_459del
ENST00000579286.5:n.430_432del
ENST00000579886.2:c.201+122_201+124del ENSP00000463246.1:n.201+122_201+124del
ENST00000580263.5:n.413_415del
ENST00000581562.5:n.296_298del
ENST00000582056.5:n.339_341del
ENST00000582166.1:n.137_139del
ENST00000582356.5:n.448_450del
ENST00000583312.5:c.249_251del ENSP00000467920.1:p.Thr84del
ENST00000584103.5:c.249_251del ENSP00000465353.1:p.Thr84del
NM_000018.3:c.249_251del NP_000009.1:p.Thr84del
NM_001033859.2:c.183_185del NP_001029031.1:p.Thr62del
NM_001270447.1:c.318_320del NP_001257376.1:p.Thr107del
NM_001270448.1:c.21_23del NP_001257377.1:p.Thr8del
XM_006721516.2:c.249_251del XP_006721579.2:p.Thr84del
XM_011523829.1:c.249_251del XP_011522131.1:p.Thr84del
XM_011523830.1:c.249_251del XP_011522132.1:p.Thr84del
XR_934021.1:n.356_358del
XR_934022.1:n.356_358del
XR_934023.1:n.356_358del
XM_006721516.3:c.249_251del XP_006721579.2:p.Thr84del
XM_011523829.2:c.249_251del XP_011522131.1:p.Thr84del
XM_011523830.2:c.249_251del XP_011522132.1:p.Thr84del
XM_024450741.1:c.249_251del XP_024306509.1:p.Thr84del
XR_934021.2:n.308_310del
XR_934022.2:n.308_310del
XR_934023.2:n.308_310del
NM_000018.4:c.249_251del MANE Select NP_000009.1:p.Thr84del
NM_001033859.3:c.183_185del NP_001029031.1:p.Thr62del
NM_001270447.2:c.318_320del NP_001257376.1:p.Thr107del
NM_001270448.2:c.21_23del NP_001257377.1:p.Thr8del