Canonical Allele Identifier: CA2635783163
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222748-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222750dup , CM000679.2:g.7222750dup GRCh38
NC_000017.10:g.7126069dup , CM000679.1:g.7126069dup GRCh37
NC_000017.9:g.7066793dup NCBI36
NG_007975.1:g.7917dup
NG_008391.2:g.2302dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.962dup MANE Select ENSP00000349297.5:p.Asn321LysfsTer5
ENST00000322910.9:c.*917dup ENSP00000325395.5:n.*917dup
ENST00000350303.9:c.896dup ENSP00000344152.5:p.Asn299LysfsTer5
ENST00000356839.9:c.962dup ENSP00000349297.5:p.Asn321LysfsTer5
ENST00000543245.6:c.1031dup ENSP00000438689.2:p.Asn344LysfsTer5
ENST00000578824.5:n.111dup
ENST00000581378.5:c.680dup
ENST00000582379.1:n.346dup
NM_000018.3:c.962dup NP_000009.1:p.Asn321LysfsTer5
NM_001033859.2:c.896dup NP_001029031.1:p.Asn299LysfsTer5
NM_001270447.1:c.1031dup NP_001257376.1:p.Asn344LysfsTer5
NM_001270448.1:c.734dup NP_001257377.1:p.Asn245LysfsTer5
XM_006721516.2:c.962dup XP_006721579.2:p.Asn321LysfsTer5
XM_011523829.1:c.962dup XP_011522131.1:p.Asn321LysfsTer5
XM_011523830.1:c.962dup XP_011522132.1:p.Asn321LysfsTer5
XR_934021.1:n.1069dup
XR_934022.1:n.1069dup
XR_934023.1:n.1069dup
XM_006721516.3:c.962dup XP_006721579.2:p.Asn321LysfsTer5
XM_011523829.2:c.962dup XP_011522131.1:p.Asn321LysfsTer5
XM_011523830.2:c.962dup XP_011522132.1:p.Asn321LysfsTer5
XM_024450741.1:c.962dup XP_024306509.1:p.Asn321LysfsTer5
XR_934021.2:n.1021dup
XR_934022.2:n.1021dup
XR_934023.2:n.1021dup
NM_000018.4:c.962dup MANE Select NP_000009.1:p.Asn321LysfsTer5
NM_001033859.3:c.896dup NP_001029031.1:p.Asn299LysfsTer5
NM_001270447.2:c.1031dup NP_001257376.1:p.Asn344LysfsTer5
NM_001270448.2:c.734dup NP_001257377.1:p.Asn245LysfsTer5
Search 100 bp 5'
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