Canonical Allele Identifier: CA2245709784
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222825_7222826delinsCG , CM000679.2:g.7222825_7222826delinsCG GRCh38
NC_000017.10:g.7126144_7126145delinsCG , CM000679.1:g.7126144_7126145delinsCG GRCh37
NC_000017.9:g.7066868_7066869delinsCG NCBI36
NG_007975.1:g.7992_7993delinsCG
NG_008391.2:g.2225_2226delinsCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1037_1038delinsCG MANE Select ENSP00000349297.5:p.Ala346=
ENST00000322910.9:c.*992_*993delinsCG ENSP00000325395.5:n.*992_*993delinsCG
ENST00000350303.9:c.971_972delinsCG ENSP00000344152.5:p.Ala324=
ENST00000356839.9:c.1037_1038delinsCG ENSP00000349297.5:p.Ala346=
ENST00000543245.6:c.1106_1107delinsCG ENSP00000438689.2:p.Ala369=
ENST00000578824.5:n.186_187delinsCG
ENST00000582379.1:n.421_422delinsCG
ENST00000583858.5:c.66_67delinsCG
NM_000018.3:c.1037_1038delinsCG NP_000009.1:p.Ala346=
NM_001033859.2:c.971_972delinsCG NP_001029031.1:p.Ala324=
NM_001270447.1:c.1106_1107delinsCG NP_001257376.1:p.Ala369=
NM_001270448.1:c.809_810delinsCG NP_001257377.1:p.Ala270=
XM_006721516.2:c.1037_1038delinsCG XP_006721579.2:p.Ala346=
XM_011523829.1:c.1037_1038delinsCG XP_011522131.1:p.Ala346=
XM_011523830.1:c.1037_1038delinsCG XP_011522132.1:p.Ala346=
XR_934021.1:n.1144_1145delinsCG
XR_934022.1:n.1144_1145delinsCG
XR_934023.1:n.1144_1145delinsCG
XM_006721516.3:c.1037_1038delinsCG XP_006721579.2:p.Ala346=
XM_011523829.2:c.1037_1038delinsCG XP_011522131.1:p.Ala346=
XM_011523830.2:c.1037_1038delinsCG XP_011522132.1:p.Ala346=
XM_024450741.1:c.1037_1038delinsCG XP_024306509.1:p.Ala346=
XR_934021.2:n.1096_1097delinsCG
XR_934022.2:n.1096_1097delinsCG
XR_934023.2:n.1096_1097delinsCG
NM_000018.4:c.1037_1038delinsCG MANE Select NP_000009.1:p.Ala346=
NM_001033859.3:c.971_972delinsCG NP_001029031.1:p.Ala324=
NM_001270447.2:c.1106_1107delinsCG NP_001257376.1:p.Ala369=
NM_001270448.2:c.809_810delinsCG NP_001257377.1:p.Ala270=
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