Canonical Allele Identifier: CA2245714564
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224534_7224546delinsCACAAGAAGGGGA , CM000679.2:g.7224534_7224546delinsCACAAGAAGGGGA GRCh38
NC_000017.10:g.7127853_7127865delinsCACAAGAAGGGGA , CM000679.1:g.7127853_7127865delinsCACAAGAAGGGGA GRCh37
NC_000017.9:g.7068577_7068589delinsCACAAGAAGGGGA NCBI36
NG_007975.1:g.9701_9713delinsCACAAGAAGGGGA
NG_008391.2:g.505_517delinsTCCCCTTCTTGTG
NG_033038.1:g.14999_15011delinsTCCCCTTCTTGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1660_1672delinsCACAAGAAGGGGA MANE Select ENSP00000349297.5:p.His554=
ENST00000322910.9:c.*1615_*1627delinsCACAAGAAGGGGA ENSP00000325395.5:n.*1615_*1627delinsCACA...
ENST00000350303.9:c.1594_1606delinsCACAAGAAGGGGA ENSP00000344152.5:p.His532=
ENST00000356839.9:c.1660_1672delinsCACAAGAAGGGGA ENSP00000349297.5:p.His554=
ENST00000542255.6:c.518_530delinsCACAAGAAGGGGA
ENST00000543245.6:c.1729_1741delinsCACAAGAAGGGGA ENSP00000438689.2:p.His577=
ENST00000578319.5:n.241_253delinsCACAAGAAGGGGA
ENST00000578711.1:n.1030_1042delinsCACAAGAAGGGGA
ENST00000578809.5:n.232_244delinsCACAAGAAGGGGA
ENST00000579391.1:n.264_276delinsCACAAGAAGGGGA
ENST00000579425.5:n.776_788delinsCACAAGAAGGGGA
ENST00000579546.1:c.395_407delinsCACAAGAAGGGGA
ENST00000582450.1:n.168_180delinsCACAAGAAGGGGA
ENST00000583074.5:n.281_293delinsCACAAGAAGGGGA
ENST00000583848.5:c.46_58delinsCACAAGAAGGGGA ENSP00000466487.1:p.His16=
ENST00000583850.5:n.431_443delinsCACAAGAAGGGGA
ENST00000583858.5:c.591_603delinsCACAAGAAGGGGA
ENST00000585203.6:n.851_863delinsCACAAGAAGGGGA
NM_000018.3:c.1660_1672delinsCACAAGAAGGGGA NP_000009.1:p.His554=
NM_001033859.2:c.1594_1606delinsCACAAGAAGGGGA NP_001029031.1:p.His532=
NM_001270447.1:c.1729_1741delinsCACAAGAAGGGGA NP_001257376.1:p.His577=
NM_001270448.1:c.1432_1444delinsCACAAGAAGGGGA NP_001257377.1:p.His478=
XM_006721516.2:c.1660_1672delinsCACAAGAAGGGGA XP_006721579.2:p.His554=
XM_011523829.1:c.1558_1570delinsCACAAGAAGGGGA XP_011522131.1:p.His520=
XM_011523830.1:c.1558_1570delinsCACAAGAAGGGGA XP_011522132.1:p.His520=
XR_934021.1:n.1763_1775delinsCACAAGAAGGGGA
XR_934022.1:n.1669_1681delinsCACAAGAAGGGGA
XR_934023.1:n.1669_1681delinsCACAAGAAGGGGA
XM_006721516.3:c.1660_1672delinsCACAAGAAGGGGA XP_006721579.2:p.His554=
XM_011523829.2:c.1558_1570delinsCACAAGAAGGGGA XP_011522131.1:p.His520=
XM_011523830.2:c.1558_1570delinsCACAAGAAGGGGA XP_011522132.1:p.His520=
XM_024450741.1:c.1648_1660delinsCACAAGAAGGGGA XP_024306509.1:p.His550=
XR_934021.2:n.1715_1727delinsCACAAGAAGGGGA
XR_934022.2:n.1621_1633delinsCACAAGAAGGGGA
XR_934023.2:n.1621_1633delinsCACAAGAAGGGGA
NM_000018.4:c.1660_1672delinsCACAAGAAGGGGA MANE Select NP_000009.1:p.His554=
NM_001033859.3:c.1594_1606delinsCACAAGAAGGGGA NP_001029031.1:p.His532=
NM_001270447.2:c.1729_1741delinsCACAAGAAGGGGA NP_001257376.1:p.His577=
NM_001270448.2:c.1432_1444delinsCACAAGAAGGGGA NP_001257377.1:p.His478=