Canonical Allele Identifier: CA2245701387
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222231_7222232delinsTC , CM000679.2:g.7222231_7222232delinsTC GRCh38
NC_000017.10:g.7125550_7125551delinsTC , CM000679.1:g.7125550_7125551delinsTC GRCh37
NC_000017.9:g.7066274_7066275delinsTC NCBI36
NG_007975.1:g.7398_7399delinsTC
NG_008391.2:g.2819_2820delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.807_808delinsTC MANE Select ENSP00000349297.5:p.Asp269=
ENST00000322910.9:c.*762_*763delinsTC ENSP00000325395.5:n.*762_*763delinsTC
ENST00000350303.9:c.741_742delinsTC ENSP00000344152.5:p.Asp247=
ENST00000356839.9:c.807_808delinsTC ENSP00000349297.5:p.Asp269=
ENST00000543245.6:c.876_877delinsTC ENSP00000438689.2:p.Asp292=
ENST00000577191.5:n.979_980delinsTC
ENST00000581378.5:c.525_526delinsTC
ENST00000582379.1:n.191_192delinsTC
NM_000018.3:c.807_808delinsTC NP_000009.1:p.Asp269=
NM_001033859.2:c.741_742delinsTC NP_001029031.1:p.Asp247=
NM_001270447.1:c.876_877delinsTC NP_001257376.1:p.Asp292=
NM_001270448.1:c.579_580delinsTC NP_001257377.1:p.Asp193=
XM_006721516.2:c.807_808delinsTC XP_006721579.2:p.Asp269=
XM_011523829.1:c.807_808delinsTC XP_011522131.1:p.Asp269=
XM_011523830.1:c.807_808delinsTC XP_011522132.1:p.Asp269=
XR_934021.1:n.914_915delinsTC
XR_934022.1:n.914_915delinsTC
XR_934023.1:n.914_915delinsTC
XM_006721516.3:c.807_808delinsTC XP_006721579.2:p.Asp269=
XM_011523829.2:c.807_808delinsTC XP_011522131.1:p.Asp269=
XM_011523830.2:c.807_808delinsTC XP_011522132.1:p.Asp269=
XM_024450741.1:c.807_808delinsTC XP_024306509.1:p.Asp269=
XR_934021.2:n.866_867delinsTC
XR_934022.2:n.866_867delinsTC
XR_934023.2:n.866_867delinsTC
NM_000018.4:c.807_808delinsTC MANE Select NP_000009.1:p.Asp269=
NM_001033859.3:c.741_742delinsTC NP_001029031.1:p.Asp247=
NM_001270447.2:c.876_877delinsTC NP_001257376.1:p.Asp292=
NM_001270448.2:c.579_580delinsTC NP_001257377.1:p.Asp193=
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