Canonical Allele Identifier: CA2635783675

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7222984-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222987del , CM000679.2:g.7222987del	GRCh38
NC_000017.10:g.7126306del , CM000679.1:g.7126306del	GRCh37
NC_000017.9:g.7067030del	NCBI36
NG_007975.1:g.8154del
NG_008391.2:g.2066del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1077+122del MANE Select	ENSP00000349297.5:n.1077+122del
ENST00000322910.9:c.*1032+122del	ENSP00000325395.5:n.*1032+122del
ENST00000350303.9:c.1011+122del	ENSP00000344152.5:n.1011+122del
ENST00000356839.9:c.1077+122del	ENSP00000349297.5:n.1077+122del
ENST00000543245.6:c.1146+122del	ENSP00000438689.2:n.1146+122del
ENST00000578824.5:n.348del
ENST00000582379.1:n.583del
ENST00000583858.5:c.106+122del
ENST00000585203.6:n.140del
NM_000018.3:c.1077+122del	NP_000009.1:n.1077+122del
NM_001033859.2:c.1011+122del	NP_001029031.1:n.1011+122del
NM_001270447.1:c.1146+122del	NP_001257376.1:n.1146+122del
NM_001270448.1:c.849+122del	NP_001257377.1:n.849+122del
XM_006721516.2:c.1077+122del	XP_006721579.2:n.1077+122del
XM_011523829.1:c.1077+122del	XP_011522131.1:n.1077+122del
XM_011523830.1:c.1077+122del	XP_011522132.1:n.1077+122del
XR_934021.1:n.1184+122del
XR_934022.1:n.1184+122del
XR_934023.1:n.1184+122del
XM_006721516.3:c.1077+122del	XP_006721579.2:n.1077+122del
XM_011523829.2:c.1077+122del	XP_011522131.1:n.1077+122del
XM_011523830.2:c.1077+122del	XP_011522132.1:n.1077+122del
XM_024450741.1:c.1077+122del	XP_024306509.1:n.1077+122del
XR_934021.2:n.1136+122del
XR_934022.2:n.1136+122del
XR_934023.2:n.1136+122del
NM_000018.4:c.1077+122del MANE Select	NP_000009.1:n.1077+122del
NM_001033859.3:c.1011+122del	NP_001029031.1:n.1011+122del
NM_001270447.2:c.1146+122del	NP_001257376.1:n.1146+122del
NM_001270448.2:c.849+122del	NP_001257377.1:n.849+122del