Canonical Allele Identifier: CA2635783512
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224110-AGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224112_7224113del , CM000679.2:g.7224112_7224113del GRCh38
NC_000017.10:g.7127431_7127432del , CM000679.1:g.7127431_7127432del GRCh37
NC_000017.9:g.7068155_7068156del NCBI36
NG_007975.1:g.9279_9280del
NG_008391.2:g.939_940del
NG_033038.1:g.15433_15434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1435-34_1435-33del MANE Select ENSP00000349297.5:n.1435-34_1435-33del
ENST00000322910.9:c.*1390-34_*1390-33del ENSP00000325395.5:n.*1390-34_*1390-33del
ENST00000350303.9:c.1369-34_1369-33del ENSP00000344152.5:n.1369-34_1369-33del
ENST00000356839.9:c.1435-34_1435-33del ENSP00000349297.5:n.1435-34_1435-33del
ENST00000542255.6:c.293-34_293-33del
ENST00000543245.6:c.1504-34_1504-33del ENSP00000438689.2:n.1504-34_1504-33del
ENST00000578711.1:n.608_609del
ENST00000579391.1:n.9_10del
ENST00000579425.5:n.551-34_551-33del
ENST00000579546.1:c.271+43_271+44del
ENST00000579894.5:n.188_189del
ENST00000583074.5:n.153+43_153+44del
ENST00000583850.5:n.210-34_210-33del
ENST00000583858.5:c.463+43_463+44del
ENST00000585203.6:n.626-34_626-33del
NM_000018.3:c.1435-34_1435-33del NP_000009.1:n.1435-34_1435-33del
NM_001033859.2:c.1369-34_1369-33del NP_001029031.1:n.1369-34_1369-33del
NM_001270447.1:c.1504-34_1504-33del NP_001257376.1:n.1504-34_1504-33del
NM_001270448.1:c.1207-34_1207-33del NP_001257377.1:n.1207-34_1207-33del
XM_006721516.2:c.1435-34_1435-33del XP_006721579.2:n.1435-34_1435-33del
XM_011523829.1:c.1434+43_1434+44del XP_011522131.1:n.1434+43_1434+44del
XM_011523830.1:c.1434+43_1434+44del XP_011522132.1:n.1434+43_1434+44del
XR_934021.1:n.1542-34_1542-33del
XR_934022.1:n.1541+43_1541+44del
XR_934023.1:n.1541+43_1541+44del
XM_006721516.3:c.1435-34_1435-33del XP_006721579.2:n.1435-34_1435-33del
XM_011523829.2:c.1434+43_1434+44del XP_011522131.1:n.1434+43_1434+44del
XM_011523830.2:c.1434+43_1434+44del XP_011522132.1:n.1434+43_1434+44del
XM_024450741.1:c.1434+43_1434+44del XP_024306509.1:n.1434+43_1434+44del
XR_934021.2:n.1494-34_1494-33del
XR_934022.2:n.1493+43_1493+44del
XR_934023.2:n.1493+43_1493+44del
NM_000018.4:c.1435-34_1435-33del MANE Select NP_000009.1:n.1435-34_1435-33del
NM_001033859.3:c.1369-34_1369-33del NP_001029031.1:n.1369-34_1369-33del
NM_001270447.2:c.1504-34_1504-33del NP_001257376.1:n.1504-34_1504-33del
NM_001270448.2:c.1207-34_1207-33del NP_001257377.1:n.1207-34_1207-33del
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