Canonical Allele Identifier: CA2695224262
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224571_7224583del , CM000679.2:g.7224571_7224583del GRCh38
NC_000017.10:g.7127890_7127902del , CM000679.1:g.7127890_7127902del GRCh37
NC_000017.9:g.7068614_7068626del NCBI36
NG_007975.1:g.9738_9750del
NG_008391.2:g.470_482del
NG_033038.1:g.14964_14976del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1678+19_1678+31del MANE Select ENSP00000349297.5:n.1678+19_1678+31del
ENST00000322910.9:c.*1633+19_*1633+31del ENSP00000325395.5:n.*1633+19_*1633+31del
ENST00000350303.9:c.1612+19_1612+31del ENSP00000344152.5:n.1612+19_1612+31del
ENST00000356839.9:c.1678+19_1678+31del ENSP00000349297.5:n.1678+19_1678+31del
ENST00000542255.6:c.536+19_536+31del
ENST00000543245.6:c.1747+19_1747+31del ENSP00000438689.2:n.1747+19_1747+31del
ENST00000578319.5:n.259+19_259+31del
ENST00000578711.1:n.1067_1079del
ENST00000578809.5:n.250+19_250+31del
ENST00000579391.1:n.301_313del
ENST00000579425.5:n.794+19_794+31del
ENST00000579546.1:c.413+19_413+31del
ENST00000582450.1:n.205_217del
ENST00000583074.5:n.299+19_299+31del
ENST00000583848.5:c.64+19_64+31del ENSP00000466487.1:n.64+19_64+31del
ENST00000583850.5:n.449+19_449+31del
ENST00000583858.5:c.609+19_609+31del
ENST00000585203.6:n.869+19_869+31del
NM_000018.3:c.1678+19_1678+31del NP_000009.1:n.1678+19_1678+31del
NM_001033859.2:c.1612+19_1612+31del NP_001029031.1:n.1612+19_1612+31del
NM_001270447.1:c.1747+19_1747+31del NP_001257376.1:n.1747+19_1747+31del
NM_001270448.1:c.1450+19_1450+31del NP_001257377.1:n.1450+19_1450+31del
XM_006721516.2:c.1678+19_1678+31del XP_006721579.2:n.1678+19_1678+31del
XM_011523829.1:c.1576+19_1576+31del XP_011522131.1:n.1576+19_1576+31del
XM_011523830.1:c.1576+19_1576+31del XP_011522132.1:n.1576+19_1576+31del
XR_934021.1:n.1781+19_1781+31del
XR_934022.1:n.1687+19_1687+31del
XR_934023.1:n.1687+19_1687+31del
XM_006721516.3:c.1678+19_1678+31del XP_006721579.2:n.1678+19_1678+31del
XM_011523829.2:c.1576+19_1576+31del XP_011522131.1:n.1576+19_1576+31del
XM_011523830.2:c.1576+19_1576+31del XP_011522132.1:n.1576+19_1576+31del
XM_024450741.1:c.1666+19_1666+31del XP_024306509.1:n.1666+19_1666+31del
XR_934021.2:n.1733+19_1733+31del
XR_934022.2:n.1639+19_1639+31del
XR_934023.2:n.1639+19_1639+31del
NM_000018.4:c.1678+19_1678+31del MANE Select NP_000009.1:n.1678+19_1678+31del
NM_001033859.3:c.1612+19_1612+31del NP_001029031.1:n.1612+19_1612+31del
NM_001270447.2:c.1747+19_1747+31del NP_001257376.1:n.1747+19_1747+31del
NM_001270448.2:c.1450+19_1450+31del NP_001257377.1:n.1450+19_1450+31del