Canonical Allele Identifier: CA913013639
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126148dup (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222830dup , CM000679.2:g.7222830dup GRCh38
NC_000017.10:g.7126149dup , CM000679.1:g.7126149dup GRCh37
NC_000017.9:g.7066873dup NCBI36
NG_007975.1:g.7997dup
NG_008391.2:g.2223dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1042dup MANE Select ENSP00000349297.5:p.Leu348ProfsTer11
ENST00000322910.9:c.*997dup ENSP00000325395.5:n.*997dup
ENST00000350303.9:c.976dup ENSP00000344152.5:p.Leu326ProfsTer11
ENST00000356839.9:c.1042dup ENSP00000349297.5:p.Leu348ProfsTer11
ENST00000543245.6:c.1111dup ENSP00000438689.2:p.Leu371ProfsTer11
ENST00000578824.5:n.191dup
ENST00000582379.1:n.426dup
ENST00000583858.5:c.71dup
NM_000018.3:c.1042dup NP_000009.1:p.Leu348ProfsTer11
NM_001033859.2:c.976dup NP_001029031.1:p.Leu326ProfsTer11
NM_001270447.1:c.1111dup NP_001257376.1:p.Leu371ProfsTer11
NM_001270448.1:c.814dup NP_001257377.1:p.Leu272ProfsTer11
XM_006721516.2:c.1042dup XP_006721579.2:p.Leu348ProfsTer11
XM_011523829.1:c.1042dup XP_011522131.1:p.Leu348ProfsTer11
XM_011523830.1:c.1042dup XP_011522132.1:p.Leu348ProfsTer11
XR_934021.1:n.1149dup
XR_934022.1:n.1149dup
XR_934023.1:n.1149dup
XM_006721516.3:c.1042dup XP_006721579.2:p.Leu348ProfsTer11
XM_011523829.2:c.1042dup XP_011522131.1:p.Leu348ProfsTer11
XM_011523830.2:c.1042dup XP_011522132.1:p.Leu348ProfsTer11
XM_024450741.1:c.1042dup XP_024306509.1:p.Leu348ProfsTer11
XR_934021.2:n.1101dup
XR_934022.2:n.1101dup
XR_934023.2:n.1101dup
NM_000018.4:c.1042dup MANE Select NP_000009.1:p.Leu348ProfsTer11
NM_001033859.3:c.976dup NP_001029031.1:p.Leu326ProfsTer11
NM_001270447.2:c.1111dup NP_001257376.1:p.Leu371ProfsTer11
NM_001270448.2:c.814dup NP_001257377.1:p.Leu272ProfsTer11
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