Canonical Allele Identifier: CA2576148015
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222864dup , CM000679.2:g.7222864dup GRCh38
NC_000017.10:g.7126183dup , CM000679.1:g.7126183dup GRCh37
NC_000017.9:g.7066907dup NCBI36
NG_007975.1:g.8031dup
NG_008391.2:g.2187dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1076dup MANE Select ENSP00000349297.5:p.Val360GlyfsTer6
ENST00000322910.9:c.*1031dup ENSP00000325395.5:n.*1031dup
ENST00000350303.9:c.1010dup ENSP00000344152.5:p.Val338GlyfsTer6
ENST00000356839.9:c.1076dup ENSP00000349297.5:p.Val360GlyfsTer6
ENST00000543245.6:c.1145dup ENSP00000438689.2:p.Val383GlyfsTer6
ENST00000578824.5:n.225dup
ENST00000582379.1:n.460dup
ENST00000583858.5:c.105dup
ENST00000585203.6:n.17dup
NM_000018.3:c.1076dup NP_000009.1:p.Val360GlyfsTer6
NM_001033859.2:c.1010dup NP_001029031.1:p.Val338GlyfsTer6
NM_001270447.1:c.1145dup NP_001257376.1:p.Val383GlyfsTer6
NM_001270448.1:c.848dup NP_001257377.1:p.Val284GlyfsTer6
XM_006721516.2:c.1076dup XP_006721579.2:p.Val360GlyfsTer6
XM_011523829.1:c.1076dup XP_011522131.1:p.Val360GlyfsTer6
XM_011523830.1:c.1076dup XP_011522132.1:p.Val360GlyfsTer6
XR_934021.1:n.1183dup
XR_934022.1:n.1183dup
XR_934023.1:n.1183dup
XM_006721516.3:c.1076dup XP_006721579.2:p.Val360GlyfsTer6
XM_011523829.2:c.1076dup XP_011522131.1:p.Val360GlyfsTer6
XM_011523830.2:c.1076dup XP_011522132.1:p.Val360GlyfsTer6
XM_024450741.1:c.1076dup XP_024306509.1:p.Val360GlyfsTer6
XR_934021.2:n.1135dup
XR_934022.2:n.1135dup
XR_934023.2:n.1135dup
NM_000018.4:c.1076dup MANE Select NP_000009.1:p.Val360GlyfsTer6
NM_001033859.3:c.1010dup NP_001029031.1:p.Val338GlyfsTer6
NM_001270447.2:c.1145dup NP_001257376.1:p.Val383GlyfsTer6
NM_001270448.2:c.848dup NP_001257377.1:p.Val284GlyfsTer6
Search 100 bp 5'
Search 100 bp 3'