Canonical Allele Identifier: CA2635782080
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222225-TAC-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222227_7222228del , CM000679.2:g.7222227_7222228del GRCh38
NC_000017.10:g.7125546_7125547del , CM000679.1:g.7125546_7125547del GRCh37
NC_000017.9:g.7066270_7066271del NCBI36
NG_007975.1:g.7394_7395del
NG_008391.2:g.2824_2825del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.803_804del MANE Select ENSP00000349297.5:p.Thr268ArgfsTer29
ENST00000322910.9:c.*758_*759del ENSP00000325395.5:n.*758_*759del
ENST00000350303.9:c.737_738del ENSP00000344152.5:p.Thr246ArgfsTer29
ENST00000356839.9:c.803_804del ENSP00000349297.5:p.Thr268ArgfsTer29
ENST00000543245.6:c.872_873del ENSP00000438689.2:p.Thr291ArgfsTer29
ENST00000577191.5:n.975_976del
ENST00000581378.5:c.521_522del
ENST00000582379.1:n.187_188del
NM_000018.3:c.803_804del NP_000009.1:p.Thr268ArgfsTer29
NM_001033859.2:c.737_738del NP_001029031.1:p.Thr246ArgfsTer29
NM_001270447.1:c.872_873del NP_001257376.1:p.Thr291ArgfsTer29
NM_001270448.1:c.575_576del NP_001257377.1:p.Thr192ArgfsTer29
XM_006721516.2:c.803_804del XP_006721579.2:p.Thr268ArgfsTer29
XM_011523829.1:c.803_804del XP_011522131.1:p.Thr268ArgfsTer29
XM_011523830.1:c.803_804del XP_011522132.1:p.Thr268ArgfsTer29
XR_934021.1:n.910_911del
XR_934022.1:n.910_911del
XR_934023.1:n.910_911del
XM_006721516.3:c.803_804del XP_006721579.2:p.Thr268ArgfsTer29
XM_011523829.2:c.803_804del XP_011522131.1:p.Thr268ArgfsTer29
XM_011523830.2:c.803_804del XP_011522132.1:p.Thr268ArgfsTer29
XM_024450741.1:c.803_804del XP_024306509.1:p.Thr268ArgfsTer29
XR_934021.2:n.862_863del
XR_934022.2:n.862_863del
XR_934023.2:n.862_863del
NM_000018.4:c.803_804del MANE Select NP_000009.1:p.Thr268ArgfsTer29
NM_001033859.3:c.737_738del NP_001029031.1:p.Thr246ArgfsTer29
NM_001270447.2:c.872_873del NP_001257376.1:p.Thr291ArgfsTer29
NM_001270448.2:c.575_576del NP_001257377.1:p.Thr192ArgfsTer29
Search 100 bp 5'
Search 100 bp 3'