Canonical Allele Identifier: CA2245711425
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223644_7223645delinsTC , CM000679.2:g.7223644_7223645delinsTC GRCh38
NC_000017.10:g.7126963_7126964delinsTC , CM000679.1:g.7126963_7126964delinsTC GRCh37
NC_000017.9:g.7067687_7067688delinsTC NCBI36
NG_007975.1:g.8811_8812delinsTC
NG_008391.2:g.1406_1407delinsGA
NG_033038.1:g.15900_15901delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183_1184delinsTC MANE Select ENSP00000349297.5:p.Ser395=
ENST00000322910.9:c.*1138_*1139delinsTC ENSP00000325395.5:n.*1138_*1139delinsTC
ENST00000350303.9:c.1117_1118delinsTC ENSP00000344152.5:p.Ser373=
ENST00000356839.9:c.1183_1184delinsTC ENSP00000349297.5:p.Ser395=
ENST00000542255.6:c.41_42delinsTC
ENST00000543245.6:c.1252_1253delinsTC ENSP00000438689.2:p.Ser418=
ENST00000578579.2:n.354_355delinsTC
ENST00000578711.1:n.140_141delinsTC
ENST00000578824.5:n.599_600delinsTC
ENST00000579425.5:n.207_208delinsTC
ENST00000579546.1:c.20_21delinsTC
ENST00000583858.5:c.212_213delinsTC
ENST00000585203.6:n.391_392delinsTC
NM_000018.3:c.1183_1184delinsTC NP_000009.1:p.Ser395=
NM_001033859.2:c.1117_1118delinsTC NP_001029031.1:p.Ser373=
NM_001270447.1:c.1252_1253delinsTC NP_001257376.1:p.Ser418=
NM_001270448.1:c.955_956delinsTC NP_001257377.1:p.Ser319=
XM_006721516.2:c.1183_1184delinsTC XP_006721579.2:p.Ser395=
XM_011523829.1:c.1183_1184delinsTC XP_011522131.1:p.Ser395=
XM_011523830.1:c.1183_1184delinsTC XP_011522132.1:p.Ser395=
XR_934021.1:n.1290_1291delinsTC
XR_934022.1:n.1290_1291delinsTC
XR_934023.1:n.1290_1291delinsTC
XM_006721516.3:c.1183_1184delinsTC XP_006721579.2:p.Ser395=
XM_011523829.2:c.1183_1184delinsTC XP_011522131.1:p.Ser395=
XM_011523830.2:c.1183_1184delinsTC XP_011522132.1:p.Ser395=
XM_024450741.1:c.1183_1184delinsTC XP_024306509.1:p.Ser395=
XR_934021.2:n.1242_1243delinsTC
XR_934022.2:n.1242_1243delinsTC
XR_934023.2:n.1242_1243delinsTC
NM_000018.4:c.1183_1184delinsTC MANE Select NP_000009.1:p.Ser395=
NM_001033859.3:c.1117_1118delinsTC NP_001029031.1:p.Ser373=
NM_001270447.2:c.1252_1253delinsTC NP_001257376.1:p.Ser418=
NM_001270448.2:c.955_956delinsTC NP_001257377.1:p.Ser319=