Canonical Allele Identifier: CA2499224906

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1148188
• ClinVar RCV Id: RCV001487943
• dbSNP Id: rs2142989035

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224561_7224562delinsAG , CM000679.2:g.7224561_7224562delinsAG	GRCh38
NC_000017.10:g.7127880_7127881delinsAG , CM000679.1:g.7127880_7127881delinsAG	GRCh37
NC_000017.9:g.7068604_7068605delinsAG	NCBI36
NG_007975.1:g.9728_9729delinsAG
NG_008391.2:g.489_490delinsCT
NG_033038.1:g.14983_14984delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1678+9_1678+10delinsAG MANE Select	ENSP00000349297.5:n.1678+9_1678+10delinsA...
ENST00000322910.9:c.*1633+9_*1633+10delinsAG	ENSP00000325395.5:n.*1633+9_*1633+10delin...
ENST00000350303.9:c.1612+9_1612+10delinsAG	ENSP00000344152.5:n.1612+9_1612+10delinsA...
ENST00000356839.9:c.1678+9_1678+10delinsAG	ENSP00000349297.5:n.1678+9_1678+10delinsA...
ENST00000542255.6:c.536+9_536+10delinsAG
ENST00000543245.6:c.1747+9_1747+10delinsAG	ENSP00000438689.2:n.1747+9_1747+10delinsA...
ENST00000578319.5:n.259+9_259+10delinsAG
ENST00000578711.1:n.1057_1058delinsAG
ENST00000578809.5:n.250+9_250+10delinsAG
ENST00000579391.1:n.291_292delinsAG
ENST00000579425.5:n.794+9_794+10delinsAG
ENST00000579546.1:c.413+9_413+10delinsAG
ENST00000582450.1:n.195_196delinsAG
ENST00000583074.5:n.299+9_299+10delinsAG
ENST00000583848.5:c.64+9_64+10delinsAG	ENSP00000466487.1:n.64+9_64+10delinsAG
ENST00000583850.5:n.449+9_449+10delinsAG
ENST00000583858.5:c.609+9_609+10delinsAG
ENST00000585203.6:n.869+9_869+10delinsAG
NM_000018.3:c.1678+9_1678+10delinsAG	NP_000009.1:n.1678+9_1678+10delinsAG
NM_001033859.2:c.1612+9_1612+10delinsAG	NP_001029031.1:n.1612+9_1612+10delinsAG
NM_001270447.1:c.1747+9_1747+10delinsAG	NP_001257376.1:n.1747+9_1747+10delinsAG
NM_001270448.1:c.1450+9_1450+10delinsAG	NP_001257377.1:n.1450+9_1450+10delinsAG
XM_006721516.2:c.1678+9_1678+10delinsAG	XP_006721579.2:n.1678+9_1678+10delinsAG
XM_011523829.1:c.1576+9_1576+10delinsAG	XP_011522131.1:n.1576+9_1576+10delinsAG
XM_011523830.1:c.1576+9_1576+10delinsAG	XP_011522132.1:n.1576+9_1576+10delinsAG
XR_934021.1:n.1781+9_1781+10delinsAG
XR_934022.1:n.1687+9_1687+10delinsAG
XR_934023.1:n.1687+9_1687+10delinsAG
XM_006721516.3:c.1678+9_1678+10delinsAG	XP_006721579.2:n.1678+9_1678+10delinsAG
XM_011523829.2:c.1576+9_1576+10delinsAG	XP_011522131.1:n.1576+9_1576+10delinsAG
XM_011523830.2:c.1576+9_1576+10delinsAG	XP_011522132.1:n.1576+9_1576+10delinsAG
XM_024450741.1:c.1666+9_1666+10delinsAG	XP_024306509.1:n.1666+9_1666+10delinsAG
XR_934021.2:n.1733+9_1733+10delinsAG
XR_934022.2:n.1639+9_1639+10delinsAG
XR_934023.2:n.1639+9_1639+10delinsAG
NM_000018.4:c.1678+9_1678+10delinsAG MANE Select	NP_000009.1:n.1678+9_1678+10delinsAG
NM_001033859.3:c.1612+9_1612+10delinsAG	NP_001029031.1:n.1612+9_1612+10delinsAG
NM_001270447.2:c.1747+9_1747+10delinsAG	NP_001257376.1:n.1747+9_1747+10delinsAG
NM_001270448.2:c.1450+9_1450+10delinsAG	NP_001257377.1:n.1450+9_1450+10delinsAG