Canonical Allele Identifier: CA8338290
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2764131
ClinVar RCV Id: RCV003498719
dbSNP Id: rs780975067

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224950_7224952dup , CM000679.2:g.7224950_7224952dup GRCh38
NC_000017.10:g.7128269_7128271dup , CM000679.1:g.7128269_7128271dup GRCh37
NC_000017.9:g.7068993_7068995dup NCBI36
NG_007975.1:g.10117_10119dup
NG_008391.2:g.100_102dup
NG_033038.1:g.14594_14596dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1828-7_1828-5dup MANE Select ENSP00000349297.5:n.1828-7_1828-5dup
ENST00000322910.9:c.*1783-7_*1783-5dup ENSP00000325395.5:n.*1783-7_*1783-5dup
ENST00000350303.9:c.1762-7_1762-5dup ENSP00000344152.5:n.1762-7_1762-5dup
ENST00000356839.9:c.1828-7_1828-5dup ENSP00000349297.5:n.1828-7_1828-5dup
ENST00000542255.6:c.707-7_707-5dup
ENST00000543245.6:c.1897-7_1897-5dup ENSP00000438689.2:n.1897-7_1897-5dup
ENST00000578033.1:n.253-7_253-5dup
ENST00000578319.5:n.409-7_409-5dup
ENST00000578711.1:n.1446_1448dup
ENST00000578809.5:n.400-7_400-5dup
ENST00000579425.5:n.944-7_944-5dup
ENST00000579546.1:c.563-7_563-5dup
ENST00000583848.5:c.194-7_194-5dup ENSP00000466487.1:n.194-7_194-5dup
ENST00000583850.5:n.599-7_599-5dup
ENST00000583858.5:c.759-7_759-5dup
NM_000018.3:c.1828-7_1828-5dup NP_000009.1:n.1828-7_1828-5dup
NM_001033859.2:c.1762-7_1762-5dup NP_001029031.1:n.1762-7_1762-5dup
NM_001270447.1:c.1897-7_1897-5dup NP_001257376.1:n.1897-7_1897-5dup
NM_001270448.1:c.1600-7_1600-5dup NP_001257377.1:n.1600-7_1600-5dup
XM_006721516.2:c.1849-7_1849-5dup XP_006721579.2:n.1849-7_1849-5dup
XM_011523829.1:c.1747-7_1747-5dup XP_011522131.1:n.1747-7_1747-5dup
XM_011523830.1:c.1726-7_1726-5dup XP_011522132.1:n.1726-7_1726-5dup
XR_934021.1:n.1931-7_1931-5dup
XR_934022.1:n.1837-7_1837-5dup
XR_934023.1:n.1858-7_1858-5dup
XM_006721516.3:c.1849-7_1849-5dup XP_006721579.2:n.1849-7_1849-5dup
XM_011523829.2:c.1747-7_1747-5dup XP_011522131.1:n.1747-7_1747-5dup
XM_011523830.2:c.1726-7_1726-5dup XP_011522132.1:n.1726-7_1726-5dup
XM_024450741.1:c.1816-7_1816-5dup XP_024306509.1:n.1816-7_1816-5dup
XR_934021.2:n.1883-7_1883-5dup
XR_934022.2:n.1789-7_1789-5dup
XR_934023.2:n.1810-7_1810-5dup
NM_000018.4:c.1828-7_1828-5dup MANE Select NP_000009.1:n.1828-7_1828-5dup
NM_001033859.3:c.1762-7_1762-5dup NP_001029031.1:n.1762-7_1762-5dup
NM_001270447.2:c.1897-7_1897-5dup NP_001257376.1:n.1897-7_1897-5dup
NM_001270448.2:c.1600-7_1600-5dup NP_001257377.1:n.1600-7_1600-5dup