Canonical Allele Identifier: CA624860765
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1327896933
gnomAD v2: 17-7127766-CCT-C
gnomAD v4: 17-7224447-CCT-C
MyVariant Identifiers: chr17:g.7127767_7127768del (hg19) chr17:g.7224448_7224449del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224450_7224451del , CM000679.2:g.7224450_7224451del GRCh38
NC_000017.10:g.7127769_7127770del , CM000679.1:g.7127769_7127770del GRCh37
NC_000017.9:g.7068493_7068494del NCBI36
NG_007975.1:g.9617_9618del
NG_008391.2:g.602_603del
NG_033038.1:g.15096_15097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1606-30_1606-29del MANE Select ENSP00000349297.5:n.1606-30_1606-29del
ENST00000322910.9:c.*1561-30_*1561-29del ENSP00000325395.5:n.*1561-30_*1561-29del
ENST00000350303.9:c.1540-30_1540-29del ENSP00000344152.5:n.1540-30_1540-29del
ENST00000356839.9:c.1606-30_1606-29del ENSP00000349297.5:n.1606-30_1606-29del
ENST00000542255.6:c.464-30_464-29del
ENST00000543245.6:c.1675-30_1675-29del ENSP00000438689.2:n.1675-30_1675-29del
ENST00000578319.5:n.157_158del
ENST00000578711.1:n.946_947del
ENST00000578809.5:n.178-30_178-29del
ENST00000579391.1:n.214-34_214-33del
ENST00000579425.5:n.722-30_722-29del
ENST00000579546.1:c.345-34_345-33del
ENST00000579894.5:n.393-30_393-29del
ENST00000582450.1:n.114-30_114-29del
ENST00000583074.5:n.227-30_227-29del
ENST00000583850.5:n.381-34_381-33del
ENST00000583858.5:c.537-30_537-29del
ENST00000585203.6:n.797-30_797-29del
NM_000018.3:c.1606-30_1606-29del NP_000009.1:n.1606-30_1606-29del
NM_001033859.2:c.1540-30_1540-29del NP_001029031.1:n.1540-30_1540-29del
NM_001270447.1:c.1675-30_1675-29del NP_001257376.1:n.1675-30_1675-29del
NM_001270448.1:c.1378-30_1378-29del NP_001257377.1:n.1378-30_1378-29del
XM_006721516.2:c.1606-30_1606-29del XP_006721579.2:n.1606-30_1606-29del
XM_011523829.1:c.1508-34_1508-33del XP_011522131.1:n.1508-34_1508-33del
XM_011523830.1:c.1508-34_1508-33del XP_011522132.1:n.1508-34_1508-33del
XR_934021.1:n.1713-34_1713-33del
XR_934022.1:n.1615-30_1615-29del
XR_934023.1:n.1615-30_1615-29del
XM_006721516.3:c.1606-30_1606-29del XP_006721579.2:n.1606-30_1606-29del
XM_011523829.2:c.1508-34_1508-33del XP_011522131.1:n.1508-34_1508-33del
XM_011523830.2:c.1508-34_1508-33del XP_011522132.1:n.1508-34_1508-33del
XM_024450741.1:c.1564_1565del XP_024306509.1:p.Leu522GlufsTer9
XR_934021.2:n.1665-34_1665-33del
XR_934022.2:n.1567-30_1567-29del
XR_934023.2:n.1567-30_1567-29del
NM_000018.4:c.1606-30_1606-29del MANE Select NP_000009.1:n.1606-30_1606-29del
NM_001033859.3:c.1540-30_1540-29del NP_001029031.1:n.1540-30_1540-29del
NM_001270447.2:c.1675-30_1675-29del NP_001257376.1:n.1675-30_1675-29del
NM_001270448.2:c.1378-30_1378-29del NP_001257377.1:n.1378-30_1378-29del
Search 100 bp 5'
Search 100 bp 3'