Canonical Allele Identifier: CA913013635
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125499_7125502del (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222180_7222183del , CM000679.2:g.7222180_7222183del GRCh38
NC_000017.10:g.7125499_7125502del , CM000679.1:g.7125499_7125502del GRCh37
NC_000017.9:g.7066223_7066226del NCBI36
NG_007975.1:g.7347_7350del
NG_008391.2:g.2868_2871del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.756_759del MANE Select ENSP00000349297.5:p.Asn252LysfsTer3
ENST00000322910.9:c.*711_*714del ENSP00000325395.5:n.*711_*714del
ENST00000350303.9:c.690_693del ENSP00000344152.5:p.Asn230LysfsTer3
ENST00000356839.9:c.756_759del ENSP00000349297.5:p.Asn252LysfsTer3
ENST00000543245.6:c.825_828del ENSP00000438689.2:p.Asn275LysfsTer3
ENST00000577191.5:n.928_931del
ENST00000581378.5:c.474_477del
ENST00000582379.1:n.140_143del
NM_000018.3:c.756_759del NP_000009.1:p.Asn252LysfsTer3
NM_001033859.2:c.690_693del NP_001029031.1:p.Asn230LysfsTer3
NM_001270447.1:c.825_828del NP_001257376.1:p.Asn275LysfsTer3
NM_001270448.1:c.528_531del NP_001257377.1:p.Asn176LysfsTer3
XM_006721516.2:c.756_759del XP_006721579.2:p.Asn252LysfsTer3
XM_011523829.1:c.756_759del XP_011522131.1:p.Asn252LysfsTer3
XM_011523830.1:c.756_759del XP_011522132.1:p.Asn252LysfsTer3
XR_934021.1:n.863_866del
XR_934022.1:n.863_866del
XR_934023.1:n.863_866del
XM_006721516.3:c.756_759del XP_006721579.2:p.Asn252LysfsTer3
XM_011523829.2:c.756_759del XP_011522131.1:p.Asn252LysfsTer3
XM_011523830.2:c.756_759del XP_011522132.1:p.Asn252LysfsTer3
XM_024450741.1:c.756_759del XP_024306509.1:p.Asn252LysfsTer3
XR_934021.2:n.815_818del
XR_934022.2:n.815_818del
XR_934023.2:n.815_818del
NM_000018.4:c.756_759del MANE Select NP_000009.1:p.Asn252LysfsTer3
NM_001033859.3:c.690_693del NP_001029031.1:p.Asn230LysfsTer3
NM_001270447.2:c.825_828del NP_001257376.1:p.Asn275LysfsTer3
NM_001270448.2:c.528_531del NP_001257377.1:p.Asn176LysfsTer3
Search 100 bp 5'
Search 100 bp 3'