Canonical Allele Identifier: CA3046210249

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224553_7224641del , CM000679.2:g.7224553_7224641del	GRCh38
NC_000017.10:g.7127872_7127960del , CM000679.1:g.7127872_7127960del	GRCh37
NC_000017.9:g.7068596_7068684del	NCBI36
NG_007975.1:g.9720_9808del
NG_008391.2:g.410_498del
NG_033038.1:g.14904_14992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1678+1_1679-1del MANE Select	ENSP00000349297.5:n.1678+1_1679-1del
ENST00000322910.9:c.*1633+1_*1634-1del	ENSP00000325395.5:n.*1633+1_*1634-1del
ENST00000350303.9:c.1612+1_1613-1del	ENSP00000344152.5:n.1612+1_1613-1del
ENST00000356839.9:c.1678+1_1679-1del	ENSP00000349297.5:n.1678+1_1679-1del
ENST00000542255.6:c.536+1_537-74del
ENST00000543245.6:c.1747+1_1748-1del	ENSP00000438689.2:n.1747+1_1748-1del
ENST00000578319.5:n.259+1_260-1del
ENST00000578711.1:n.1049_1137del
ENST00000578809.5:n.250+1_251-1del
ENST00000579425.5:n.794+1_795-1del
ENST00000579546.1:c.413+1_414-1del
ENST00000582450.1:n.187_275del
ENST00000583074.5:n.299+1_300-74del
ENST00000583848.5:c.64+1_65-21del	ENSP00000466487.1:n.64+1_65-21del
ENST00000583850.5:n.449+1_450-1del
ENST00000583858.5:c.609+1_610-1del
ENST00000585203.6:n.869+1_870-1del
NM_000018.3:c.1678+1_1679-1del	NP_000009.1:n.1678+1_1679-1del
NM_001033859.2:c.1612+1_1613-1del	NP_001029031.1:n.1612+1_1613-1del
NM_001270447.1:c.1747+1_1748-1del	NP_001257376.1:n.1747+1_1748-1del
NM_001270448.1:c.1450+1_1451-1del	NP_001257377.1:n.1450+1_1451-1del
XM_006721516.2:c.1678+1_1679-74del	XP_006721579.2:n.1678+1_1679-74del
XM_011523829.1:c.1576+1_1577-74del	XP_011522131.1:n.1576+1_1577-74del
XM_011523830.1:c.1576+1_1577-1del	XP_011522132.1:n.1576+1_1577-1del
XR_934021.1:n.1781+1_1782-1del
XR_934022.1:n.1687+1_1688-1del
XR_934023.1:n.1687+1_1688-74del
XM_006721516.3:c.1678+1_1679-74del	XP_006721579.2:n.1678+1_1679-74del
XM_011523829.2:c.1576+1_1577-74del	XP_011522131.1:n.1576+1_1577-74del
XM_011523830.2:c.1576+1_1577-1del	XP_011522132.1:n.1576+1_1577-1del
XM_024450741.1:c.1666+1_1667-1del	XP_024306509.1:n.1666+1_1667-1del
XR_934021.2:n.1733+1_1734-1del
XR_934022.2:n.1639+1_1640-1del
XR_934023.2:n.1639+1_1640-74del
NM_000018.4:c.1678+1_1679-1del MANE Select	NP_000009.1:n.1678+1_1679-1del
NM_001033859.3:c.1612+1_1613-1del	NP_001029031.1:n.1612+1_1613-1del
NM_001270447.2:c.1747+1_1748-1del	NP_001257376.1:n.1747+1_1748-1del
NM_001270448.2:c.1450+1_1451-1del	NP_001257377.1:n.1450+1_1451-1del