Canonical Allele Identifier: CA645373068
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 432271
ClinVar RCV Id: RCV000498991
dbSNP Id: rs1555528188
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221633_7221640delinsTTT , CM000679.2:g.7221633_7221640delinsTTT GRCh38
NC_000017.10:g.7124952_7124959delinsTTT , CM000679.1:g.7124952_7124959delinsTTT GRCh37
NC_000017.9:g.7065676_7065683delinsTTT NCBI36
NG_007975.1:g.6800_6807delinsTTT
NG_008391.2:g.3411_3418delinsAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.573_580delinsTTT MANE Select ENSP00000349297.5:p.Gly193LysfsTer?
ENST00000322910.9:c.*528_*535delinsTTT ENSP00000325395.5:n.*528_*535delinsTTT
ENST00000350303.9:c.507_514delinsTTT ENSP00000344152.5:p.Gly171LysfsTer?
ENST00000356839.9:c.573_580delinsTTT ENSP00000349297.5:p.Gly193LysfsTer?
ENST00000543245.6:c.642_649delinsTTT ENSP00000438689.2:p.Gly216LysfsTer?
ENST00000577191.5:n.650_657delinsTTT
ENST00000577433.5:n.781_788delinsTTT
ENST00000577857.5:n.389_396delinsTTT
ENST00000579286.5:n.754_761delinsTTT
ENST00000579886.2:c.411_418delinsTTT ENSP00000463246.1:p.Gly139LysfsTer?
ENST00000580365.1:n.304_311delinsTTT
ENST00000581378.5:c.291_298delinsTTT
ENST00000581562.5:n.525-319_525-312delinsTTT
ENST00000583312.5:c.573_580delinsTTT ENSP00000467920.1:p.Gly193LysfsTer?
ENST00000583760.1:n.355_362delinsTTT
NM_000018.3:c.573_580delinsTTT NP_000009.1:p.Gly193LysfsTer?
NM_001033859.2:c.507_514delinsTTT NP_001029031.1:p.Gly171LysfsTer?
NM_001270447.1:c.642_649delinsTTT NP_001257376.1:p.Gly216LysfsTer?
NM_001270448.1:c.345_352delinsTTT NP_001257377.1:p.Gly117LysfsTer?
XM_006721516.2:c.573_580delinsTTT XP_006721579.2:p.Gly193LysfsTer?
XM_011523829.1:c.573_580delinsTTT XP_011522131.1:p.Gly193LysfsTer?
XM_011523830.1:c.573_580delinsTTT XP_011522132.1:p.Gly193LysfsTer?
XR_934021.1:n.680_687delinsTTT
XR_934022.1:n.680_687delinsTTT
XR_934023.1:n.680_687delinsTTT
XM_006721516.3:c.573_580delinsTTT XP_006721579.2:p.Gly193LysfsTer?
XM_011523829.2:c.573_580delinsTTT XP_011522131.1:p.Gly193LysfsTer?
XM_011523830.2:c.573_580delinsTTT XP_011522132.1:p.Gly193LysfsTer?
XM_024450741.1:c.573_580delinsTTT XP_024306509.1:p.Gly193LysfsTer?
XR_934021.2:n.632_639delinsTTT
XR_934022.2:n.632_639delinsTTT
XR_934023.2:n.632_639delinsTTT
NM_000018.4:c.573_580delinsTTT MANE Select NP_000009.1:p.Gly193LysfsTer?
NM_001033859.3:c.507_514delinsTTT NP_001029031.1:p.Gly171LysfsTer?
NM_001270447.2:c.642_649delinsTTT NP_001257376.1:p.Gly216LysfsTer?
NM_001270448.2:c.345_352delinsTTT NP_001257377.1:p.Gly117LysfsTer?
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