Canonical Allele Identifier: CA2635782050
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222219-ACCAGTTACAGAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222224_7222235del , CM000679.2:g.7222224_7222235del GRCh38
NC_000017.10:g.7125543_7125554del , CM000679.1:g.7125543_7125554del GRCh37
NC_000017.9:g.7066267_7066278del NCBI36
NG_007975.1:g.7391_7402del
NG_008391.2:g.2820_2831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.800_811del MANE Select ENSP00000349297.5:p.Val267_Pro270del
ENST00000322910.9:c.*755_*766del ENSP00000325395.5:n.*755_*766del
ENST00000350303.9:c.734_745del ENSP00000344152.5:p.Val245_Pro248del
ENST00000356839.9:c.800_811del ENSP00000349297.5:p.Val267_Pro270del
ENST00000543245.6:c.869_880del ENSP00000438689.2:p.Val290_Pro293del
ENST00000577191.5:n.972_983del
ENST00000581378.5:c.518_529del
ENST00000582379.1:n.184_195del
NM_000018.3:c.800_811del NP_000009.1:p.Val267_Pro270del
NM_001033859.2:c.734_745del NP_001029031.1:p.Val245_Pro248del
NM_001270447.1:c.869_880del NP_001257376.1:p.Val290_Pro293del
NM_001270448.1:c.572_583del NP_001257377.1:p.Val191_Pro194del
XM_006721516.2:c.800_811del XP_006721579.2:p.Val267_Pro270del
XM_011523829.1:c.800_811del XP_011522131.1:p.Val267_Pro270del
XM_011523830.1:c.800_811del XP_011522132.1:p.Val267_Pro270del
XR_934021.1:n.907_918del
XR_934022.1:n.907_918del
XR_934023.1:n.907_918del
XM_006721516.3:c.800_811del XP_006721579.2:p.Val267_Pro270del
XM_011523829.2:c.800_811del XP_011522131.1:p.Val267_Pro270del
XM_011523830.2:c.800_811del XP_011522132.1:p.Val267_Pro270del
XM_024450741.1:c.800_811del XP_024306509.1:p.Val267_Pro270del
XR_934021.2:n.859_870del
XR_934022.2:n.859_870del
XR_934023.2:n.859_870del
NM_000018.4:c.800_811del MANE Select NP_000009.1:p.Val267_Pro270del
NM_001033859.3:c.734_745del NP_001029031.1:p.Val245_Pro248del
NM_001270447.2:c.869_880del NP_001257376.1:p.Val290_Pro293del
NM_001270448.2:c.572_583del NP_001257377.1:p.Val191_Pro194del
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