Canonical Allele Identifier: CA2635783800

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223070-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223074_7223075del , CM000679.2:g.7223074_7223075del	GRCh38
NC_000017.10:g.7126393_7126394del , CM000679.1:g.7126393_7126394del	GRCh37
NC_000017.9:g.7067117_7067118del	NCBI36
NG_007975.1:g.8241_8242del
NG_008391.2:g.1979_1980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1078-59_1078-58del MANE Select	ENSP00000349297.5:n.1078-59_1078-58del
ENST00000322910.9:c.*1033-59_*1033-58del	ENSP00000325395.5:n.*1033-59_*1033-58del
ENST00000350303.9:c.1012-59_1012-58del	ENSP00000344152.5:n.1012-59_1012-58del
ENST00000356839.9:c.1078-59_1078-58del	ENSP00000349297.5:n.1078-59_1078-58del
ENST00000543245.6:c.1147-59_1147-58del	ENSP00000438689.2:n.1147-59_1147-58del
ENST00000578824.5:n.435_436del
ENST00000579425.5:n.43_44del
ENST00000582379.1:n.670_671del
ENST00000583858.5:c.107-59_107-58del
ENST00000585203.6:n.227_228del
NM_000018.3:c.1078-59_1078-58del	NP_000009.1:n.1078-59_1078-58del
NM_001033859.2:c.1012-59_1012-58del	NP_001029031.1:n.1012-59_1012-58del
NM_001270447.1:c.1147-59_1147-58del	NP_001257376.1:n.1147-59_1147-58del
NM_001270448.1:c.850-59_850-58del	NP_001257377.1:n.850-59_850-58del
XM_006721516.2:c.1078-59_1078-58del	XP_006721579.2:n.1078-59_1078-58del
XM_011523829.1:c.1078-59_1078-58del	XP_011522131.1:n.1078-59_1078-58del
XM_011523830.1:c.1078-59_1078-58del	XP_011522132.1:n.1078-59_1078-58del
XR_934021.1:n.1185-59_1185-58del
XR_934022.1:n.1185-59_1185-58del
XR_934023.1:n.1185-59_1185-58del
XM_006721516.3:c.1078-59_1078-58del	XP_006721579.2:n.1078-59_1078-58del
XM_011523829.2:c.1078-59_1078-58del	XP_011522131.1:n.1078-59_1078-58del
XM_011523830.2:c.1078-59_1078-58del	XP_011522132.1:n.1078-59_1078-58del
XM_024450741.1:c.1078-59_1078-58del	XP_024306509.1:n.1078-59_1078-58del
XR_934021.2:n.1137-59_1137-58del
XR_934022.2:n.1137-59_1137-58del
XR_934023.2:n.1137-59_1137-58del
NM_000018.4:c.1078-59_1078-58del MANE Select	NP_000009.1:n.1078-59_1078-58del
NM_001033859.3:c.1012-59_1012-58del	NP_001029031.1:n.1012-59_1012-58del
NM_001270447.2:c.1147-59_1147-58del	NP_001257376.1:n.1147-59_1147-58del
NM_001270448.2:c.850-59_850-58del	NP_001257377.1:n.850-59_850-58del