Canonical Allele Identifier: CA287434246
Community Standard Title: NM_000018.4(ACADVL):c.192dup (p.Pro65ThrfsTer7)
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220517dup , CM000679.2:g.7220517dup GRCh38
NC_000017.10:g.7123836dup , CM000679.1:g.7123836dup GRCh37
NC_000017.9:g.7064560dup NCBI36
NG_007975.1:g.5684dup
NG_008391.2:g.4539dup

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.192dup MANE Select NP_000009.1:p.Pro65ThrfsTer7
ENST00000356839.10:c.192dup MANE Select ENSP00000349297.5:p.Pro65ThrfsTer7
NM_000018.3:c.192dup NP_000009.1:p.Pro65ThrfsTer7
NM_001033859.2:c.139-87dup NP_001029031.1:n.139-87dup
NM_001033859.3:c.139-87dup NP_001029031.1:n.139-87dup
NM_001270447.1:c.261dup NP_001257376.1:p.Pro88ThrfsTer7
NM_001270447.2:c.261dup NP_001257376.1:p.Pro88ThrfsTer7
NM_001270448.1:c.-37dup NP_001257377.1:n.-37dup
NM_001270448.2:c.-37dup NP_001257377.1:n.-37dup
ENST00000322910.9:c.*147dup ENSP00000325395.5:n.*147dup
ENST00000350303.9:c.139-87dup ENSP00000344152.5:n.139-87dup
ENST00000356839.9:c.192dup ENSP00000349297.5:p.Pro65ThrfsTer7
ENST00000543245.6:c.261dup ENSP00000438689.2:p.Pro88ThrfsTer7
ENST00000577191.5:n.269dup
ENST00000577433.5:n.326dup
ENST00000577857.5:n.229-249dup
ENST00000578269.5:n.565dup
ENST00000578421.1:n.326dup
ENST00000579286.5:n.299dup
ENST00000579886.2:c.192dup ENSP00000463246.1:p.Pro65ThrfsTer5
ENST00000580263.5:n.282dup
ENST00000581562.5:n.239dup
ENST00000582056.5:n.282dup
ENST00000582166.1:n.80dup
ENST00000582356.5:n.317dup
ENST00000583312.5:c.192dup ENSP00000467920.1:p.Pro65ThrfsTer7
ENST00000584103.5:c.192dup ENSP00000465353.1:p.Pro65ThrfsTer7
XM_006721516.2:c.192dup XP_006721579.2:p.Pro65ThrfsTer7
XM_006721516.3:c.192dup XP_006721579.2:p.Pro65ThrfsTer7
XM_011523829.1:c.192dup XP_011522131.1:p.Pro65ThrfsTer7
XM_011523829.2:c.192dup XP_011522131.1:p.Pro65ThrfsTer7
XM_011523830.1:c.192dup XP_011522132.1:p.Pro65ThrfsTer7
XM_011523830.2:c.192dup XP_011522132.1:p.Pro65ThrfsTer7
XM_024450741.1:c.192dup XP_024306509.1:p.Pro65ThrfsTer7
XR_934021.1:n.299dup
XR_934021.2:n.251dup
XR_934022.1:n.299dup
XR_934022.2:n.251dup
XR_934023.1:n.299dup
XR_934023.2:n.251dup