Canonical Allele Identifier: CA2245714762

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224593_7224596delinsCCTT , CM000679.2:g.7224593_7224596delinsCCTT	GRCh38
NC_000017.10:g.7127912_7127915delinsCCTT , CM000679.1:g.7127912_7127915delinsCCTT	GRCh37
NC_000017.9:g.7068636_7068639delinsCCTT	NCBI36
NG_007975.1:g.9760_9763delinsCCTT
NG_008391.2:g.455_458delinsAAGG
NG_033038.1:g.14949_14952delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1678+41_1678+44delinsCCTT MANE Select	ENSP00000349297.5:n.1678+41_1678+44delinsCCTT
ENST00000322910.9:c.*1633+41_*1633+44delinsCCTT	ENSP00000325395.5:n.*1633+41_*1633+44delinsCCTT
ENST00000350303.9:c.1612+41_1612+44delinsCCTT	ENSP00000344152.5:n.1612+41_1612+44delinsCCTT
ENST00000356839.9:c.1678+41_1678+44delinsCCTT	ENSP00000349297.5:n.1678+41_1678+44delinsCCTT
ENST00000542255.6:c.536+41_536+44delinsCCTT
ENST00000543245.6:c.1747+41_1747+44delinsCCTT	ENSP00000438689.2:n.1747+41_1747+44delinsCCTT
ENST00000578319.5:n.259+41_259+44delinsCCTT
ENST00000578711.1:n.1089_1092delinsCCTT
ENST00000578809.5:n.250+41_250+44delinsCCTT
ENST00000579391.1:n.323_326delinsCCTT
ENST00000579425.5:n.794+41_794+44delinsCCTT
ENST00000579546.1:c.413+41_413+44delinsCCTT
ENST00000582450.1:n.227_230delinsCCTT
ENST00000583074.5:n.299+41_299+44delinsCCTT
ENST00000583848.5:c.64+41_64+44delinsCCTT	ENSP00000466487.1:n.64+41_64+44delinsCCTT
ENST00000583850.5:n.449+41_449+44delinsCCTT
ENST00000583858.5:c.609+41_609+44delinsCCTT
ENST00000585203.6:n.869+41_869+44delinsCCTT
NM_000018.3:c.1678+41_1678+44delinsCCTT	NP_000009.1:n.1678+41_1678+44delinsCCTT
NM_001033859.2:c.1612+41_1612+44delinsCCTT	NP_001029031.1:n.1612+41_1612+44delinsCCTT
NM_001270447.1:c.1747+41_1747+44delinsCCTT	NP_001257376.1:n.1747+41_1747+44delinsCCTT
NM_001270448.1:c.1450+41_1450+44delinsCCTT	NP_001257377.1:n.1450+41_1450+44delinsCCTT
XM_006721516.2:c.1678+41_1678+44delinsCCTT	XP_006721579.2:n.1678+41_1678+44delinsCCTT
XM_011523829.1:c.1576+41_1576+44delinsCCTT	XP_011522131.1:n.1576+41_1576+44delinsCCTT
XM_011523830.1:c.1576+41_1576+44delinsCCTT	XP_011522132.1:n.1576+41_1576+44delinsCCTT
XR_934021.1:n.1781+41_1781+44delinsCCTT
XR_934022.1:n.1687+41_1687+44delinsCCTT
XR_934023.1:n.1687+41_1687+44delinsCCTT
XM_006721516.3:c.1678+41_1678+44delinsCCTT	XP_006721579.2:n.1678+41_1678+44delinsCCTT
XM_011523829.2:c.1576+41_1576+44delinsCCTT	XP_011522131.1:n.1576+41_1576+44delinsCCTT
XM_011523830.2:c.1576+41_1576+44delinsCCTT	XP_011522132.1:n.1576+41_1576+44delinsCCTT
XM_024450741.1:c.1666+41_1666+44delinsCCTT	XP_024306509.1:n.1666+41_1666+44delinsCCTT
XR_934021.2:n.1733+41_1733+44delinsCCTT
XR_934022.2:n.1639+41_1639+44delinsCCTT
XR_934023.2:n.1639+41_1639+44delinsCCTT
NM_000018.4:c.1678+41_1678+44delinsCCTT MANE Select	NP_000009.1:n.1678+41_1678+44delinsCCTT
NM_001033859.3:c.1612+41_1612+44delinsCCTT	NP_001029031.1:n.1612+41_1612+44delinsCCTT
NM_001270447.2:c.1747+41_1747+44delinsCCTT	NP_001257376.1:n.1747+41_1747+44delinsCCTT
NM_001270448.2:c.1450+41_1450+44delinsCCTT	NP_001257377.1:n.1450+41_1450+44delinsCCTT