Canonical Allele Identifier: CA2808365730
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220832_7220924del , CM000679.2:g.7220832_7220924del GRCh38
NC_000017.10:g.7124151_7124243del , CM000679.1:g.7124151_7124243del GRCh37
NC_000017.9:g.7064875_7064967del NCBI36
NG_007975.1:g.5999_6091del
NG_008391.2:g.4130_4222del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.342+2_343del
ENST00000322910.9:c.*297+2_*298del
ENST00000350303.9:c.276+2_277del
ENST00000356839.9:c.342+2_343del
ENST00000543245.6:c.411+2_412del
ENST00000577191.5:n.419+2_420del
ENST00000577433.5:n.550+2_551del
ENST00000577857.5:n.293+2_293+94del
ENST00000579286.5:n.523+2_524del
ENST00000579886.2:c.202-113_202-21del ENSP00000463246.1:n.202-113_202-21del
ENST00000580365.1:n.73+2_74del
ENST00000581378.5:c.41+2_42del
ENST00000581562.5:n.389+2_390del
ENST00000582056.5:n.434_526del
ENST00000582166.1:n.232_324del
ENST00000583312.5:c.342+2_343del
ENST00000584103.5:c.342+2_376del
NM_000018.3:c.342+2_343del
NM_001033859.2:c.276+2_277del
NM_001270447.1:c.411+2_412del
NM_001270448.1:c.114+2_115del
XM_006721516.2:c.342+2_343del
XM_011523829.1:c.342+2_343del
XM_011523830.1:c.342+2_343del
XR_934021.1:n.449+2_450del
XR_934022.1:n.449+2_450del
XR_934023.1:n.449+2_450del
XM_006721516.3:c.342+2_343del
XM_011523829.2:c.342+2_343del
XM_011523830.2:c.342+2_343del
XM_024450741.1:c.342+2_343del
XR_934021.2:n.401+2_402del
XR_934022.2:n.401+2_402del
XR_934023.2:n.401+2_402del
NM_000018.4:c.342+2_343del
NM_001033859.3:c.276+2_277del
NM_001270447.2:c.411+2_412del
NM_001270448.2:c.114+2_115del