Canonical Allele Identifier: CA2245711329
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223615_7223616delinsCT , CM000679.2:g.7223615_7223616delinsCT GRCh38
NC_000017.10:g.7126934_7126935delinsCT , CM000679.1:g.7126934_7126935delinsCT GRCh37
NC_000017.9:g.7067658_7067659delinsCT NCBI36
NG_007975.1:g.8782_8783delinsCT
NG_008391.2:g.1435_1436delinsAG
NG_033038.1:g.15929_15930delinsAG

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1183-29_1183-28delinsCT MANE Select ENSP00000349297.5:n.1183-29_1183-28delins...
ENST00000322910.9:c.*1138-29_*1138-28delinsCT ENSP00000325395.5:n.*1138-29_*1138-28deli...
ENST00000350303.9:c.1117-29_1117-28delinsCT ENSP00000344152.5:n.1117-29_1117-28delins...
ENST00000356839.9:c.1183-29_1183-28delinsCT ENSP00000349297.5:n.1183-29_1183-28delins...
ENST00000542255.6:c.41-29_41-28delinsCT
ENST00000543245.6:c.1252-29_1252-28delinsCT ENSP00000438689.2:n.1252-29_1252-28delins...
ENST00000578579.2:n.325_326delinsCT
ENST00000578711.1:n.111_112delinsCT
ENST00000578824.5:n.599-29_599-28delinsCT
ENST00000579425.5:n.207-29_207-28delinsCT
ENST00000579546.1:c.20-29_20-28delinsCT
ENST00000583858.5:c.212-29_212-28delinsCT
ENST00000585203.6:n.391-29_391-28delinsCT
NM_000018.3:c.1183-29_1183-28delinsCT NP_000009.1:n.1183-29_1183-28delinsCT
NM_001033859.2:c.1117-29_1117-28delinsCT NP_001029031.1:n.1117-29_1117-28delinsCT
NM_001270447.1:c.1252-29_1252-28delinsCT NP_001257376.1:n.1252-29_1252-28delinsCT
NM_001270448.1:c.955-29_955-28delinsCT NP_001257377.1:n.955-29_955-28delinsCT
XM_006721516.2:c.1183-29_1183-28delinsCT XP_006721579.2:n.1183-29_1183-28delinsCT
XM_011523829.1:c.1183-29_1183-28delinsCT XP_011522131.1:n.1183-29_1183-28delinsCT
XM_011523830.1:c.1183-29_1183-28delinsCT XP_011522132.1:n.1183-29_1183-28delinsCT
XR_934021.1:n.1290-29_1290-28delinsCT
XR_934022.1:n.1290-29_1290-28delinsCT
XR_934023.1:n.1290-29_1290-28delinsCT
XM_006721516.3:c.1183-29_1183-28delinsCT XP_006721579.2:n.1183-29_1183-28delinsCT
XM_011523829.2:c.1183-29_1183-28delinsCT XP_011522131.1:n.1183-29_1183-28delinsCT
XM_011523830.2:c.1183-29_1183-28delinsCT XP_011522132.1:n.1183-29_1183-28delinsCT
XM_024450741.1:c.1183-29_1183-28delinsCT XP_024306509.1:n.1183-29_1183-28delinsCT
XR_934021.2:n.1242-29_1242-28delinsCT
XR_934022.2:n.1242-29_1242-28delinsCT
XR_934023.2:n.1242-29_1242-28delinsCT
NM_000018.4:c.1183-29_1183-28delinsCT MANE Select NP_000009.1:n.1183-29_1183-28delinsCT
NM_001033859.3:c.1117-29_1117-28delinsCT NP_001029031.1:n.1117-29_1117-28delinsCT
NM_001270447.2:c.1252-29_1252-28delinsCT NP_001257376.1:n.1252-29_1252-28delinsCT
NM_001270448.2:c.955-29_955-28delinsCT NP_001257377.1:n.955-29_955-28delinsCT