Canonical Allele Identifier: CA16043045
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 373427
ClinVar RCV Id: RCV000413684 RCV003168603
dbSNP Id: rs1057518411
MyVariant Identifiers: chr17:g.7128012_7128022del (hg19) chr17:g.7224693_7224703del (hg38)
ERepo: CA16043045/MONDO:0008723/021
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224693_7224703del , CM000679.2:g.7224693_7224703del GRCh38
NC_000017.10:g.7128012_7128022del , CM000679.1:g.7128012_7128022del GRCh37
NC_000017.9:g.7068736_7068746del NCBI36
NG_007975.1:g.9860_9870del
NG_008391.2:g.350_360del
NG_033038.1:g.14844_14854del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1730_1740del MANE Select ENSP00000349297.5:p.Ala577GlyfsTer11
ENST00000322910.9:c.*1685_*1695del ENSP00000325395.5:n.*1685_*1695del
ENST00000350303.9:c.1664_1674del ENSP00000344152.5:p.Ala555GlyfsTer11
ENST00000356839.9:c.1730_1740del ENSP00000349297.5:p.Ala577GlyfsTer11
ENST00000542255.6:c.537-22_537-12del
ENST00000543245.6:c.1799_1809del ENSP00000438689.2:p.Ala600GlyfsTer11
ENST00000578033.1:n.61_71del
ENST00000578319.5:n.311_321del
ENST00000578711.1:n.1189_1199del
ENST00000578809.5:n.302_312del
ENST00000579425.5:n.846_856del
ENST00000579546.1:c.465_475del
ENST00000583074.5:n.300-22_300-12del
ENST00000583848.5:c.96_106del ENSP00000466487.1:p.Cys32TrpfsTer10
ENST00000583850.5:n.501_511del
ENST00000583858.5:c.661_671del
ENST00000585203.6:n.921_931del
NM_000018.3:c.1730_1740del NP_000009.1:p.Ala577GlyfsTer11
NM_001033859.2:c.1664_1674del NP_001029031.1:p.Ala555GlyfsTer11
NM_001270447.1:c.1799_1809del NP_001257376.1:p.Ala600GlyfsTer11
NM_001270448.1:c.1502_1512del NP_001257377.1:p.Ala501GlyfsTer11
XM_006721516.2:c.1679-22_1679-12del XP_006721579.2:n.1679-22_1679-12del
XM_011523829.1:c.1577-22_1577-12del XP_011522131.1:n.1577-22_1577-12del
XM_011523830.1:c.1628_1638del XP_011522132.1:p.Ala543GlyfsTer11
XR_934021.1:n.1833_1843del
XR_934022.1:n.1739_1749del
XR_934023.1:n.1688-22_1688-12del
XM_006721516.3:c.1679-22_1679-12del XP_006721579.2:n.1679-22_1679-12del
XM_011523829.2:c.1577-22_1577-12del XP_011522131.1:n.1577-22_1577-12del
XM_011523830.2:c.1628_1638del XP_011522132.1:p.Ala543GlyfsTer11
XM_024450741.1:c.1718_1728del XP_024306509.1:p.Ala573GlyfsTer11
XR_934021.2:n.1785_1795del
XR_934022.2:n.1691_1701del
XR_934023.2:n.1640-22_1640-12del
NM_000018.4:c.1730_1740del MANE Select NP_000009.1:p.Ala577GlyfsTer11
NM_001033859.3:c.1664_1674del NP_001029031.1:p.Ala555GlyfsTer11
NM_001270447.2:c.1799_1809del NP_001257376.1:p.Ala600GlyfsTer11
NM_001270448.2:c.1502_1512del NP_001257377.1:p.Ala501GlyfsTer11
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