Canonical Allele Identifier: CA2245701452
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222250_7222253delinsAAGG , CM000679.2:g.7222250_7222253delinsAAGG GRCh38
NC_000017.10:g.7125569_7125572delinsAAGG , CM000679.1:g.7125569_7125572delinsAAGG GRCh37
NC_000017.9:g.7066293_7066296delinsAAGG NCBI36
NG_007975.1:g.7417_7420delinsAAGG
NG_008391.2:g.2798_2801delinsCCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.826_829delinsAAGG MANE Select ENSP00000349297.5:p.Lys276=
ENST00000322910.9:c.*781_*784delinsAAGG ENSP00000325395.5:n.*781_*784delinsAAGG
ENST00000350303.9:c.760_763delinsAAGG ENSP00000344152.5:p.Lys254=
ENST00000356839.9:c.826_829delinsAAGG ENSP00000349297.5:p.Lys276=
ENST00000543245.6:c.895_898delinsAAGG ENSP00000438689.2:p.Lys299=
ENST00000577191.5:n.998_1001delinsAAGG
ENST00000581378.5:c.544_547delinsAAGG
ENST00000582379.1:n.210_213delinsAAGG
NM_000018.3:c.826_829delinsAAGG NP_000009.1:p.Lys276=
NM_001033859.2:c.760_763delinsAAGG NP_001029031.1:p.Lys254=
NM_001270447.1:c.895_898delinsAAGG NP_001257376.1:p.Lys299=
NM_001270448.1:c.598_601delinsAAGG NP_001257377.1:p.Lys200=
XM_006721516.2:c.826_829delinsAAGG XP_006721579.2:p.Lys276=
XM_011523829.1:c.826_829delinsAAGG XP_011522131.1:p.Lys276=
XM_011523830.1:c.826_829delinsAAGG XP_011522132.1:p.Lys276=
XR_934021.1:n.933_936delinsAAGG
XR_934022.1:n.933_936delinsAAGG
XR_934023.1:n.933_936delinsAAGG
XM_006721516.3:c.826_829delinsAAGG XP_006721579.2:p.Lys276=
XM_011523829.2:c.826_829delinsAAGG XP_011522131.1:p.Lys276=
XM_011523830.2:c.826_829delinsAAGG XP_011522132.1:p.Lys276=
XM_024450741.1:c.826_829delinsAAGG XP_024306509.1:p.Lys276=
XR_934021.2:n.885_888delinsAAGG
XR_934022.2:n.885_888delinsAAGG
XR_934023.2:n.885_888delinsAAGG
NM_000018.4:c.826_829delinsAAGG MANE Select NP_000009.1:p.Lys276=
NM_001033859.3:c.760_763delinsAAGG NP_001029031.1:p.Lys254=
NM_001270447.2:c.895_898delinsAAGG NP_001257376.1:p.Lys299=
NM_001270448.2:c.598_601delinsAAGG NP_001257377.1:p.Lys200=