Canonical Allele Identifier: CA2635783958
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224295-CCAGT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224298_7224301del , CM000679.2:g.7224298_7224301del GRCh38
NC_000017.10:g.7127617_7127620del , CM000679.1:g.7127617_7127620del GRCh37
NC_000017.9:g.7068341_7068344del NCBI36
NG_007975.1:g.9465_9468del
NG_008391.2:g.752_755del
NG_033038.1:g.15246_15249del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1533-23_1533-20del MANE Select ENSP00000349297.5:n.1533-23_1533-20del
ENST00000322910.9:c.*1488-23_*1488-20del ENSP00000325395.5:n.*1488-23_*1488-20del
ENST00000350303.9:c.1467-23_1467-20del ENSP00000344152.5:n.1467-23_1467-20del
ENST00000356839.9:c.1533-23_1533-20del ENSP00000349297.5:n.1533-23_1533-20del
ENST00000542255.6:c.391-23_391-20del
ENST00000543245.6:c.1602-23_1602-20del ENSP00000438689.2:n.1602-23_1602-20del
ENST00000578319.5:n.28-23_28-20del
ENST00000578711.1:n.794_797del
ENST00000578809.5:n.82_85del
ENST00000579391.1:n.141-23_141-20del
ENST00000579425.5:n.649-23_649-20del
ENST00000579546.1:c.272-23_272-20del
ENST00000579894.5:n.320-23_320-20del
ENST00000582450.1:n.18_21del
ENST00000583074.5:n.154-23_154-20del
ENST00000583850.5:n.308-23_308-20del
ENST00000583858.5:c.464-23_464-20del
ENST00000585203.6:n.724-23_724-20del
NM_000018.3:c.1533-23_1533-20del NP_000009.1:n.1533-23_1533-20del
NM_001033859.2:c.1467-23_1467-20del NP_001029031.1:n.1467-23_1467-20del
NM_001270447.1:c.1602-23_1602-20del NP_001257376.1:n.1602-23_1602-20del
NM_001270448.1:c.1305-23_1305-20del NP_001257377.1:n.1305-23_1305-20del
XM_006721516.2:c.1533-23_1533-20del XP_006721579.2:n.1533-23_1533-20del
XM_011523829.1:c.1435-23_1435-20del XP_011522131.1:n.1435-23_1435-20del
XM_011523830.1:c.1435-23_1435-20del XP_011522132.1:n.1435-23_1435-20del
XR_934021.1:n.1640-23_1640-20del
XR_934022.1:n.1542-23_1542-20del
XR_934023.1:n.1542-23_1542-20del
XM_006721516.3:c.1533-23_1533-20del XP_006721579.2:n.1533-23_1533-20del
XM_011523829.2:c.1435-23_1435-20del XP_011522131.1:n.1435-23_1435-20del
XM_011523830.2:c.1435-23_1435-20del XP_011522132.1:n.1435-23_1435-20del
XM_024450741.1:c.1435-23_1435-20del XP_024306509.1:n.1435-23_1435-20del
XR_934021.2:n.1592-23_1592-20del
XR_934022.2:n.1494-23_1494-20del
XR_934023.2:n.1494-23_1494-20del
NM_000018.4:c.1533-23_1533-20del MANE Select NP_000009.1:n.1533-23_1533-20del
NM_001033859.3:c.1467-23_1467-20del NP_001029031.1:n.1467-23_1467-20del
NM_001270447.2:c.1602-23_1602-20del NP_001257376.1:n.1602-23_1602-20del
NM_001270448.2:c.1305-23_1305-20del NP_001257377.1:n.1305-23_1305-20del
Search 100 bp 5'
Search 100 bp 3'