Canonical Allele Identifier: CA2635783200

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223960-T-TGTGCTAGGAACCTGGAGTAGAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223964_7223986dup , CM000679.2:g.7223964_7223986dup	GRCh38
NC_000017.10:g.7127283_7127305dup , CM000679.1:g.7127283_7127305dup	GRCh37
NC_000017.9:g.7068007_7068029dup	NCBI36
NG_007975.1:g.9131_9153dup
NG_008391.2:g.1068_1090dup
NG_033038.1:g.15562_15584dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-4_1351dup
ENST00000322910.9:c.*1288-4_*1306dup
ENST00000350303.9:c.1267-4_1285dup
ENST00000356839.9:c.1333-4_1351dup
ENST00000542255.6:c.191-4_209dup
ENST00000543245.6:c.1402-4_1420dup
ENST00000578711.1:n.460_482dup
ENST00000579425.5:n.445_467dup
ENST00000579546.1:c.170-4_188dup
ENST00000579894.5:n.40_62dup
ENST00000583074.5:n.52-4_70dup
ENST00000583850.5:n.108-4_126dup
ENST00000583858.5:c.362-4_380dup
ENST00000585203.6:n.524-4_542dup
NM_000018.3:c.1333-4_1351dup
NM_001033859.2:c.1267-4_1285dup
NM_001270447.1:c.1402-4_1420dup
NM_001270448.1:c.1105-4_1123dup
XM_006721516.2:c.1333-4_1351dup
XM_011523829.1:c.1333-4_1351dup
XM_011523830.1:c.1333-4_1351dup
XR_934021.1:n.1440-4_1458dup
XR_934022.1:n.1440-4_1458dup
XR_934023.1:n.1440-4_1458dup
XM_006721516.3:c.1333-4_1351dup
XM_011523829.2:c.1333-4_1351dup
XM_011523830.2:c.1333-4_1351dup
XM_024450741.1:c.1333-4_1351dup
XR_934021.2:n.1392-4_1410dup
XR_934022.2:n.1392-4_1410dup
XR_934023.2:n.1392-4_1410dup
NM_000018.4:c.1333-4_1351dup
NM_001033859.3:c.1267-4_1285dup
NM_001270447.2:c.1402-4_1420dup
NM_001270448.2:c.1105-4_1123dup