Canonical Allele Identifier: CA2245714680
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071386805

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224564_7224565dup , CM000679.2:g.7224564_7224565dup GRCh38
NC_000017.10:g.7127883_7127884dup , CM000679.1:g.7127883_7127884dup GRCh37
NC_000017.9:g.7068607_7068608dup NCBI36
NG_007975.1:g.9731_9732dup
NG_008391.2:g.488_489dup
NG_033038.1:g.14982_14983dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1678+12_1678+13dup MANE Select ENSP00000349297.5:n.1678+12_1678+13dup
ENST00000322910.9:c.*1633+12_*1633+13dup ENSP00000325395.5:n.*1633+12_*1633+13dup
ENST00000350303.9:c.1612+12_1612+13dup ENSP00000344152.5:n.1612+12_1612+13dup
ENST00000356839.9:c.1678+12_1678+13dup ENSP00000349297.5:n.1678+12_1678+13dup
ENST00000542255.6:c.536+12_536+13dup
ENST00000543245.6:c.1747+12_1747+13dup ENSP00000438689.2:n.1747+12_1747+13dup
ENST00000578319.5:n.259+12_259+13dup
ENST00000578711.1:n.1060_1061dup
ENST00000578809.5:n.250+12_250+13dup
ENST00000579391.1:n.294_295dup
ENST00000579425.5:n.794+12_794+13dup
ENST00000579546.1:c.413+12_413+13dup
ENST00000582450.1:n.198_199dup
ENST00000583074.5:n.299+12_299+13dup
ENST00000583848.5:c.64+12_64+13dup ENSP00000466487.1:n.64+12_64+13dup
ENST00000583850.5:n.449+12_449+13dup
ENST00000583858.5:c.609+12_609+13dup
ENST00000585203.6:n.869+12_869+13dup
NM_000018.3:c.1678+12_1678+13dup NP_000009.1:n.1678+12_1678+13dup
NM_001033859.2:c.1612+12_1612+13dup NP_001029031.1:n.1612+12_1612+13dup
NM_001270447.1:c.1747+12_1747+13dup NP_001257376.1:n.1747+12_1747+13dup
NM_001270448.1:c.1450+12_1450+13dup NP_001257377.1:n.1450+12_1450+13dup
XM_006721516.2:c.1678+12_1678+13dup XP_006721579.2:n.1678+12_1678+13dup
XM_011523829.1:c.1576+12_1576+13dup XP_011522131.1:n.1576+12_1576+13dup
XM_011523830.1:c.1576+12_1576+13dup XP_011522132.1:n.1576+12_1576+13dup
XR_934021.1:n.1781+12_1781+13dup
XR_934022.1:n.1687+12_1687+13dup
XR_934023.1:n.1687+12_1687+13dup
XM_006721516.3:c.1678+12_1678+13dup XP_006721579.2:n.1678+12_1678+13dup
XM_011523829.2:c.1576+12_1576+13dup XP_011522131.1:n.1576+12_1576+13dup
XM_011523830.2:c.1576+12_1576+13dup XP_011522132.1:n.1576+12_1576+13dup
XM_024450741.1:c.1666+12_1666+13dup XP_024306509.1:n.1666+12_1666+13dup
XR_934021.2:n.1733+12_1733+13dup
XR_934022.2:n.1639+12_1639+13dup
XR_934023.2:n.1639+12_1639+13dup
NM_000018.4:c.1678+12_1678+13dup MANE Select NP_000009.1:n.1678+12_1678+13dup
NM_001033859.3:c.1612+12_1612+13dup NP_001029031.1:n.1612+12_1612+13dup
NM_001270447.2:c.1747+12_1747+13dup NP_001257376.1:n.1747+12_1747+13dup
NM_001270448.2:c.1450+12_1450+13dup NP_001257377.1:n.1450+12_1450+13dup