Canonical Allele Identifier: CA2245701224
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222180_7222183delinsTGGG , CM000679.2:g.7222180_7222183delinsTGGG GRCh38
NC_000017.10:g.7125499_7125502delinsTGGG , CM000679.1:g.7125499_7125502delinsTGGG GRCh37
NC_000017.9:g.7066223_7066226delinsTGGG NCBI36
NG_007975.1:g.7347_7350delinsTGGG
NG_008391.2:g.2868_2871delinsCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.756_759delinsTGGG MANE Select ENSP00000349297.5:p.Asn252=
ENST00000322910.9:c.*711_*714delinsTGGG ENSP00000325395.5:n.*711_*714delinsTGGG
ENST00000350303.9:c.690_693delinsTGGG ENSP00000344152.5:p.Asn230=
ENST00000356839.9:c.756_759delinsTGGG ENSP00000349297.5:p.Asn252=
ENST00000543245.6:c.825_828delinsTGGG ENSP00000438689.2:p.Asn275=
ENST00000577191.5:n.928_931delinsTGGG
ENST00000581378.5:c.474_477delinsTGGG
ENST00000582379.1:n.140_143delinsTGGG
NM_000018.3:c.756_759delinsTGGG NP_000009.1:p.Asn252=
NM_001033859.2:c.690_693delinsTGGG NP_001029031.1:p.Asn230=
NM_001270447.1:c.825_828delinsTGGG NP_001257376.1:p.Asn275=
NM_001270448.1:c.528_531delinsTGGG NP_001257377.1:p.Asn176=
XM_006721516.2:c.756_759delinsTGGG XP_006721579.2:p.Asn252=
XM_011523829.1:c.756_759delinsTGGG XP_011522131.1:p.Asn252=
XM_011523830.1:c.756_759delinsTGGG XP_011522132.1:p.Asn252=
XR_934021.1:n.863_866delinsTGGG
XR_934022.1:n.863_866delinsTGGG
XR_934023.1:n.863_866delinsTGGG
XM_006721516.3:c.756_759delinsTGGG XP_006721579.2:p.Asn252=
XM_011523829.2:c.756_759delinsTGGG XP_011522131.1:p.Asn252=
XM_011523830.2:c.756_759delinsTGGG XP_011522132.1:p.Asn252=
XM_024450741.1:c.756_759delinsTGGG XP_024306509.1:p.Asn252=
XR_934021.2:n.815_818delinsTGGG
XR_934022.2:n.815_818delinsTGGG
XR_934023.2:n.815_818delinsTGGG
NM_000018.4:c.756_759delinsTGGG MANE Select NP_000009.1:p.Asn252=
NM_001033859.3:c.690_693delinsTGGG NP_001029031.1:p.Asn230=
NM_001270447.2:c.825_828delinsTGGG NP_001257376.1:p.Asn275=
NM_001270448.2:c.528_531delinsTGGG NP_001257377.1:p.Asn176=