Canonical Allele Identifier: CA2635783592

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7222936-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222937_7222938del , CM000679.2:g.7222937_7222938del	GRCh38
NC_000017.10:g.7126256_7126257del , CM000679.1:g.7126256_7126257del	GRCh37
NC_000017.9:g.7066980_7066981del	NCBI36
NG_007975.1:g.8104_8105del
NG_008391.2:g.2113_2114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1077+72_1077+73del MANE Select	ENSP00000349297.5:n.1077+72_1077+73del
ENST00000322910.9:c.*1032+72_*1032+73del	ENSP00000325395.5:n.*1032+72_*1032+73del
ENST00000350303.9:c.1011+72_1011+73del	ENSP00000344152.5:n.1011+72_1011+73del
ENST00000356839.9:c.1077+72_1077+73del	ENSP00000349297.5:n.1077+72_1077+73del
ENST00000543245.6:c.1146+72_1146+73del	ENSP00000438689.2:n.1146+72_1146+73del
ENST00000578824.5:n.298_299del
ENST00000582379.1:n.533_534del
ENST00000583858.5:c.106+72_106+73del
ENST00000585203.6:n.90_91del
NM_000018.3:c.1077+72_1077+73del	NP_000009.1:n.1077+72_1077+73del
NM_001033859.2:c.1011+72_1011+73del	NP_001029031.1:n.1011+72_1011+73del
NM_001270447.1:c.1146+72_1146+73del	NP_001257376.1:n.1146+72_1146+73del
NM_001270448.1:c.849+72_849+73del	NP_001257377.1:n.849+72_849+73del
XM_006721516.2:c.1077+72_1077+73del	XP_006721579.2:n.1077+72_1077+73del
XM_011523829.1:c.1077+72_1077+73del	XP_011522131.1:n.1077+72_1077+73del
XM_011523830.1:c.1077+72_1077+73del	XP_011522132.1:n.1077+72_1077+73del
XR_934021.1:n.1184+72_1184+73del
XR_934022.1:n.1184+72_1184+73del
XR_934023.1:n.1184+72_1184+73del
XM_006721516.3:c.1077+72_1077+73del	XP_006721579.2:n.1077+72_1077+73del
XM_011523829.2:c.1077+72_1077+73del	XP_011522131.1:n.1077+72_1077+73del
XM_011523830.2:c.1077+72_1077+73del	XP_011522132.1:n.1077+72_1077+73del
XM_024450741.1:c.1077+72_1077+73del	XP_024306509.1:n.1077+72_1077+73del
XR_934021.2:n.1136+72_1136+73del
XR_934022.2:n.1136+72_1136+73del
XR_934023.2:n.1136+72_1136+73del
NM_000018.4:c.1077+72_1077+73del MANE Select	NP_000009.1:n.1077+72_1077+73del
NM_001033859.3:c.1011+72_1011+73del	NP_001029031.1:n.1011+72_1011+73del
NM_001270447.2:c.1146+72_1146+73del	NP_001257376.1:n.1146+72_1146+73del
NM_001270448.2:c.849+72_849+73del	NP_001257377.1:n.849+72_849+73del