Canonical Allele Identifier: CA2245716194
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071410583

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224998_7225000del , CM000679.2:g.7224998_7225000del GRCh38
NC_000017.10:g.7128317_7128319del , CM000679.1:g.7128317_7128319del GRCh37
NC_000017.9:g.7069041_7069043del NCBI36
NG_007975.1:g.10165_10167del
NG_008391.2:g.51_53del
NG_033038.1:g.14545_14547del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1869_1871del MANE Select ENSP00000349297.5:p.Asp624del
ENST00000322910.9:c.*1824_*1826del ENSP00000325395.5:n.*1824_*1826del
ENST00000350303.9:c.1803_1805del ENSP00000344152.5:p.Asp602del
ENST00000356839.9:c.1869_1871del ENSP00000349297.5:p.Asp624del
ENST00000542255.6:c.748_750del
ENST00000543245.6:c.1938_1940del ENSP00000438689.2:p.Asp647del
ENST00000578033.1:n.294_296del
ENST00000578319.5:n.450_452del
ENST00000578711.1:n.1494_1496del
ENST00000578809.5:n.441_443del
ENST00000579425.5:n.985_987del
ENST00000583848.5:c.235_237del ENSP00000466487.1:n.235_237del
ENST00000583850.5:n.640_642del
ENST00000583858.5:c.800_802del
NM_000018.3:c.1869_1871del NP_000009.1:p.Asp624del
NM_001033859.2:c.1803_1805del NP_001029031.1:p.Asp602del
NM_001270447.1:c.1938_1940del NP_001257376.1:p.Asp647del
NM_001270448.1:c.1641_1643del NP_001257377.1:p.Asp548del
XM_006721516.2:c.1890_1892del XP_006721579.2:p.Asp631del
XM_011523829.1:c.1788_1790del XP_011522131.1:p.Asp597del
XM_011523830.1:c.1767_1769del XP_011522132.1:p.Asp590del
XR_934021.1:n.1972_1974del
XR_934022.1:n.1878_1880del
XR_934023.1:n.1899_1901del
XM_006721516.3:c.1890_1892del XP_006721579.2:p.Asp631del
XM_011523829.2:c.1788_1790del XP_011522131.1:p.Asp597del
XM_011523830.2:c.1767_1769del XP_011522132.1:p.Asp590del
XM_024450741.1:c.1857_1859del XP_024306509.1:p.Asp620del
XR_934021.2:n.1924_1926del
XR_934022.2:n.1830_1832del
XR_934023.2:n.1851_1853del
NM_000018.4:c.1869_1871del MANE Select NP_000009.1:p.Asp624del
NM_001033859.3:c.1803_1805del NP_001029031.1:p.Asp602del
NM_001270447.2:c.1938_1940del NP_001257376.1:p.Asp647del
NM_001270448.2:c.1641_1643del NP_001257377.1:p.Asp548del