Canonical Allele Identifier: CA2635782963
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222668-GGGCCCCC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222669_7222675del , CM000679.2:g.7222669_7222675del GRCh38
NC_000017.10:g.7125988_7125994del , CM000679.1:g.7125988_7125994del GRCh37
NC_000017.9:g.7066712_7066718del NCBI36
NG_007975.1:g.7836_7842del
NG_008391.2:g.2376_2382del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.881_887del MANE Select ENSP00000349297.5:p.Gly294ValfsTer?
ENST00000322910.9:c.*836_*842del ENSP00000325395.5:n.*836_*842del
ENST00000350303.9:c.815_821del ENSP00000344152.5:p.Gly272ValfsTer?
ENST00000356839.9:c.881_887del ENSP00000349297.5:p.Gly294ValfsTer?
ENST00000543245.6:c.950_956del ENSP00000438689.2:p.Gly317ValfsTer?
ENST00000578824.5:n.30_36del
ENST00000581378.5:c.599_605del
ENST00000582379.1:n.265_271del
NM_000018.3:c.881_887del NP_000009.1:p.Gly294ValfsTer?
NM_001033859.2:c.815_821del NP_001029031.1:p.Gly272ValfsTer?
NM_001270447.1:c.950_956del NP_001257376.1:p.Gly317ValfsTer?
NM_001270448.1:c.653_659del NP_001257377.1:p.Gly218ValfsTer?
XM_006721516.2:c.881_887del XP_006721579.2:p.Gly294ValfsTer?
XM_011523829.1:c.881_887del XP_011522131.1:p.Gly294ValfsTer?
XM_011523830.1:c.881_887del XP_011522132.1:p.Gly294ValfsTer?
XR_934021.1:n.988_994del
XR_934022.1:n.988_994del
XR_934023.1:n.988_994del
XM_006721516.3:c.881_887del XP_006721579.2:p.Gly294ValfsTer?
XM_011523829.2:c.881_887del XP_011522131.1:p.Gly294ValfsTer?
XM_011523830.2:c.881_887del XP_011522132.1:p.Gly294ValfsTer?
XM_024450741.1:c.881_887del XP_024306509.1:p.Gly294ValfsTer?
XR_934021.2:n.940_946del
XR_934022.2:n.940_946del
XR_934023.2:n.940_946del
NM_000018.4:c.881_887del MANE Select NP_000009.1:p.Gly294ValfsTer?
NM_001033859.3:c.815_821del NP_001029031.1:p.Gly272ValfsTer?
NM_001270447.2:c.950_956del NP_001257376.1:p.Gly317ValfsTer?
NM_001270448.2:c.653_659del NP_001257377.1:p.Gly218ValfsTer?
Search 100 bp 5'
Search 100 bp 3'