Canonical Allele Identifier: CA2635783516
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224111-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224112dup , CM000679.2:g.7224112dup GRCh38
NC_000017.10:g.7127431dup , CM000679.1:g.7127431dup GRCh37
NC_000017.9:g.7068155dup NCBI36
NG_007975.1:g.9279dup
NG_008391.2:g.939dup
NG_033038.1:g.15433dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1435-34dup MANE Select ENSP00000349297.5:n.1435-34dup
ENST00000322910.9:c.*1390-34dup ENSP00000325395.5:n.*1390-34dup
ENST00000350303.9:c.1369-34dup ENSP00000344152.5:n.1369-34dup
ENST00000356839.9:c.1435-34dup ENSP00000349297.5:n.1435-34dup
ENST00000542255.6:c.293-34dup
ENST00000543245.6:c.1504-34dup ENSP00000438689.2:n.1504-34dup
ENST00000578711.1:n.608dup
ENST00000579391.1:n.9dup
ENST00000579425.5:n.551-34dup
ENST00000579546.1:c.271+43dup
ENST00000579894.5:n.188dup
ENST00000583074.5:n.153+43dup
ENST00000583850.5:n.210-34dup
ENST00000583858.5:c.463+43dup
ENST00000585203.6:n.626-34dup
NM_000018.3:c.1435-34dup NP_000009.1:n.1435-34dup
NM_001033859.2:c.1369-34dup NP_001029031.1:n.1369-34dup
NM_001270447.1:c.1504-34dup NP_001257376.1:n.1504-34dup
NM_001270448.1:c.1207-34dup NP_001257377.1:n.1207-34dup
XM_006721516.2:c.1435-34dup XP_006721579.2:n.1435-34dup
XM_011523829.1:c.1434+43dup XP_011522131.1:n.1434+43dup
XM_011523830.1:c.1434+43dup XP_011522132.1:n.1434+43dup
XR_934021.1:n.1542-34dup
XR_934022.1:n.1541+43dup
XR_934023.1:n.1541+43dup
XM_006721516.3:c.1435-34dup XP_006721579.2:n.1435-34dup
XM_011523829.2:c.1434+43dup XP_011522131.1:n.1434+43dup
XM_011523830.2:c.1434+43dup XP_011522132.1:n.1434+43dup
XM_024450741.1:c.1434+43dup XP_024306509.1:n.1434+43dup
XR_934021.2:n.1494-34dup
XR_934022.2:n.1493+43dup
XR_934023.2:n.1493+43dup
NM_000018.4:c.1435-34dup MANE Select NP_000009.1:n.1435-34dup
NM_001033859.3:c.1369-34dup NP_001029031.1:n.1369-34dup
NM_001270447.2:c.1504-34dup NP_001257376.1:n.1504-34dup
NM_001270448.2:c.1207-34dup NP_001257377.1:n.1207-34dup
Search 100 bp 5'
Search 100 bp 3'