Canonical Allele Identifier: CA2808367481

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224570_7224571insCAAACACACCCAACAC , CM000679.2:g.7224570_7224571insCAAACACACCCAACAC	GRCh38
NC_000017.10:g.7127889_7127890insCAAACACACCCAACAC , CM000679.1:g.7127889_7127890insCAAACACACCCAACAC	GRCh37
NC_000017.9:g.7068613_7068614insCAAACACACCCAACAC	NCBI36
NG_007975.1:g.9737_9738insCAAACACACCCAACAC
NG_008391.2:g.481_482insTGTTGGGTGTGTTTGG
NG_033038.1:g.14975_14976insTGTTGGGTGTGTTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1678+18_1678+19insCAAACACACCCAACAC MANE Select	ENSP00000349297.5:n.1678+18_1678+19insCAAACACACCCAACAC
ENST00000322910.9:c.*1633+18_*1633+19insCAAACACACCCAACAC	ENSP00000325395.5:n.*1633+18_*1633+19insCAAACACACCCAACAC
ENST00000350303.9:c.1612+18_1612+19insCAAACACACCCAACAC	ENSP00000344152.5:n.1612+18_1612+19insCAAACACACCCAACAC
ENST00000356839.9:c.1678+18_1678+19insCAAACACACCCAACAC	ENSP00000349297.5:n.1678+18_1678+19insCAAACACACCCAACAC
ENST00000542255.6:c.536+18_536+19insCAAACACACCCAACAC
ENST00000543245.6:c.1747+18_1747+19insCAAACACACCCAACAC	ENSP00000438689.2:n.1747+18_1747+19insCAAACACACCCAACAC
ENST00000578319.5:n.259+18_259+19insCAAACACACCCAACAC
ENST00000578711.1:n.1066_1067insCAAACACACCCAACAC
ENST00000578809.5:n.250+18_250+19insCAAACACACCCAACAC
ENST00000579391.1:n.300_301insCAAACACACCCAACAC
ENST00000579425.5:n.794+18_794+19insCAAACACACCCAACAC
ENST00000579546.1:c.413+18_413+19insCAAACACACCCAACAC
ENST00000582450.1:n.204_205insCAAACACACCCAACAC
ENST00000583074.5:n.299+18_299+19insCAAACACACCCAACAC
ENST00000583848.5:c.64+18_64+19insCAAACACACCCAACAC	ENSP00000466487.1:n.64+18_64+19insCAAACACACCCAACAC
ENST00000583850.5:n.449+18_449+19insCAAACACACCCAACAC
ENST00000583858.5:c.609+18_609+19insCAAACACACCCAACAC
ENST00000585203.6:n.869+18_869+19insCAAACACACCCAACAC
NM_000018.3:c.1678+18_1678+19insCAAACACACCCAACAC	NP_000009.1:n.1678+18_1678+19insCAAACACACCCAACAC
NM_001033859.2:c.1612+18_1612+19insCAAACACACCCAACAC	NP_001029031.1:n.1612+18_1612+19insCAAACACACCCAACAC
NM_001270447.1:c.1747+18_1747+19insCAAACACACCCAACAC	NP_001257376.1:n.1747+18_1747+19insCAAACACACCCAACAC
NM_001270448.1:c.1450+18_1450+19insCAAACACACCCAACAC	NP_001257377.1:n.1450+18_1450+19insCAAACACACCCAACAC
XM_006721516.2:c.1678+18_1678+19insCAAACACACCCAACAC	XP_006721579.2:n.1678+18_1678+19insCAAACACACCCAACAC
XM_011523829.1:c.1576+18_1576+19insCAAACACACCCAACAC	XP_011522131.1:n.1576+18_1576+19insCAAACACACCCAACAC
XM_011523830.1:c.1576+18_1576+19insCAAACACACCCAACAC	XP_011522132.1:n.1576+18_1576+19insCAAACACACCCAACAC
XR_934021.1:n.1781+18_1781+19insCAAACACACCCAACAC
XR_934022.1:n.1687+18_1687+19insCAAACACACCCAACAC
XR_934023.1:n.1687+18_1687+19insCAAACACACCCAACAC
XM_006721516.3:c.1678+18_1678+19insCAAACACACCCAACAC	XP_006721579.2:n.1678+18_1678+19insCAAACACACCCAACAC
XM_011523829.2:c.1576+18_1576+19insCAAACACACCCAACAC	XP_011522131.1:n.1576+18_1576+19insCAAACACACCCAACAC
XM_011523830.2:c.1576+18_1576+19insCAAACACACCCAACAC	XP_011522132.1:n.1576+18_1576+19insCAAACACACCCAACAC
XM_024450741.1:c.1666+18_1666+19insCAAACACACCCAACAC	XP_024306509.1:n.1666+18_1666+19insCAAACACACCCAACAC
XR_934021.2:n.1733+18_1733+19insCAAACACACCCAACAC
XR_934022.2:n.1639+18_1639+19insCAAACACACCCAACAC
XR_934023.2:n.1639+18_1639+19insCAAACACACCCAACAC
NM_000018.4:c.1678+18_1678+19insCAAACACACCCAACAC MANE Select	NP_000009.1:n.1678+18_1678+19insCAAACACACCCAACAC
NM_001033859.3:c.1612+18_1612+19insCAAACACACCCAACAC	NP_001029031.1:n.1612+18_1612+19insCAAACACACCCAACAC
NM_001270447.2:c.1747+18_1747+19insCAAACACACCCAACAC	NP_001257376.1:n.1747+18_1747+19insCAAACACACCCAACAC
NM_001270448.2:c.1450+18_1450+19insCAAACACACCCAACAC	NP_001257377.1:n.1450+18_1450+19insCAAACACACCCAACAC