Canonical Allele Identifier: CA2635781948
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222183-GGGCCT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222184_7222188del , CM000679.2:g.7222184_7222188del GRCh38
NC_000017.10:g.7125503_7125507del , CM000679.1:g.7125503_7125507del GRCh37
NC_000017.9:g.7066227_7066231del NCBI36
NG_007975.1:g.7351_7355del
NG_008391.2:g.2863_2867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.760_764del MANE Select ENSP00000349297.5:p.Gly254SerfsTer?
ENST00000322910.9:c.*715_*719del ENSP00000325395.5:n.*715_*719del
ENST00000350303.9:c.694_698del ENSP00000344152.5:p.Gly232SerfsTer?
ENST00000356839.9:c.760_764del ENSP00000349297.5:p.Gly254SerfsTer?
ENST00000543245.6:c.829_833del ENSP00000438689.2:p.Gly277SerfsTer?
ENST00000577191.5:n.932_936del
ENST00000581378.5:c.478_482del
ENST00000582379.1:n.144_148del
NM_000018.3:c.760_764del NP_000009.1:p.Gly254SerfsTer?
NM_001033859.2:c.694_698del NP_001029031.1:p.Gly232SerfsTer?
NM_001270447.1:c.829_833del NP_001257376.1:p.Gly277SerfsTer?
NM_001270448.1:c.532_536del NP_001257377.1:p.Gly178SerfsTer?
XM_006721516.2:c.760_764del XP_006721579.2:p.Gly254SerfsTer?
XM_011523829.1:c.760_764del XP_011522131.1:p.Gly254SerfsTer?
XM_011523830.1:c.760_764del XP_011522132.1:p.Gly254SerfsTer?
XR_934021.1:n.867_871del
XR_934022.1:n.867_871del
XR_934023.1:n.867_871del
XM_006721516.3:c.760_764del XP_006721579.2:p.Gly254SerfsTer?
XM_011523829.2:c.760_764del XP_011522131.1:p.Gly254SerfsTer?
XM_011523830.2:c.760_764del XP_011522132.1:p.Gly254SerfsTer?
XM_024450741.1:c.760_764del XP_024306509.1:p.Gly254SerfsTer?
XR_934021.2:n.819_823del
XR_934022.2:n.819_823del
XR_934023.2:n.819_823del
NM_000018.4:c.760_764del MANE Select NP_000009.1:p.Gly254SerfsTer?
NM_001033859.3:c.694_698del NP_001029031.1:p.Gly232SerfsTer?
NM_001270447.2:c.829_833del NP_001257376.1:p.Gly277SerfsTer?
NM_001270448.2:c.532_536del NP_001257377.1:p.Gly178SerfsTer?
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