Canonical Allele Identifier: CA2245701275
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222193_7222194delinsGA , CM000679.2:g.7222193_7222194delinsGA GRCh38
NC_000017.10:g.7125512_7125513delinsGA , CM000679.1:g.7125512_7125513delinsGA GRCh37
NC_000017.9:g.7066236_7066237delinsGA NCBI36
NG_007975.1:g.7360_7361delinsGA
NG_008391.2:g.2857_2858delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.769_770delinsGA MANE Select ENSP00000349297.5:p.Asp257=
ENST00000322910.9:c.*724_*725delinsGA ENSP00000325395.5:n.*724_*725delinsGA
ENST00000350303.9:c.703_704delinsGA ENSP00000344152.5:p.Asp235=
ENST00000356839.9:c.769_770delinsGA ENSP00000349297.5:p.Asp257=
ENST00000543245.6:c.838_839delinsGA ENSP00000438689.2:p.Asp280=
ENST00000577191.5:n.941_942delinsGA
ENST00000581378.5:c.487_488delinsGA
ENST00000582379.1:n.153_154delinsGA
NM_000018.3:c.769_770delinsGA NP_000009.1:p.Asp257=
NM_001033859.2:c.703_704delinsGA NP_001029031.1:p.Asp235=
NM_001270447.1:c.838_839delinsGA NP_001257376.1:p.Asp280=
NM_001270448.1:c.541_542delinsGA NP_001257377.1:p.Asp181=
XM_006721516.2:c.769_770delinsGA XP_006721579.2:p.Asp257=
XM_011523829.1:c.769_770delinsGA XP_011522131.1:p.Asp257=
XM_011523830.1:c.769_770delinsGA XP_011522132.1:p.Asp257=
XR_934021.1:n.876_877delinsGA
XR_934022.1:n.876_877delinsGA
XR_934023.1:n.876_877delinsGA
XM_006721516.3:c.769_770delinsGA XP_006721579.2:p.Asp257=
XM_011523829.2:c.769_770delinsGA XP_011522131.1:p.Asp257=
XM_011523830.2:c.769_770delinsGA XP_011522132.1:p.Asp257=
XM_024450741.1:c.769_770delinsGA XP_024306509.1:p.Asp257=
XR_934021.2:n.828_829delinsGA
XR_934022.2:n.828_829delinsGA
XR_934023.2:n.828_829delinsGA
NM_000018.4:c.769_770delinsGA MANE Select NP_000009.1:p.Asp257=
NM_001033859.3:c.703_704delinsGA NP_001029031.1:p.Asp235=
NM_001270447.2:c.838_839delinsGA NP_001257376.1:p.Asp280=
NM_001270448.2:c.541_542delinsGA NP_001257377.1:p.Asp181=
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