Canonical Allele Identifier: CA981152655
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071219473
gnomAD v3: 17-7221483-AAGGTC-A
gnomAD v4: 17-7221483-AAGGTC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221489_7221493del , CM000679.2:g.7221489_7221493del GRCh38
NC_000017.10:g.7124808_7124812del , CM000679.1:g.7124808_7124812del GRCh37
NC_000017.9:g.7065532_7065536del NCBI36
NG_007975.1:g.6656_6660del
NG_008391.2:g.3563_3567del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-49_478-45del MANE Select ENSP00000349297.5:n.478-49_478-45del
ENST00000322910.9:c.*433-49_*433-45del ENSP00000325395.5:n.*433-49_*433-45del
ENST00000350303.9:c.412-49_412-45del ENSP00000344152.5:n.412-49_412-45del
ENST00000356839.9:c.478-49_478-45del ENSP00000349297.5:n.478-49_478-45del
ENST00000543245.6:c.547-49_547-45del ENSP00000438689.2:n.547-49_547-45del
ENST00000577191.5:n.555-49_555-45del
ENST00000577433.5:n.686-49_686-45del
ENST00000577857.5:n.294-49_294-45del
ENST00000579286.5:n.659-49_659-45del
ENST00000579886.2:c.316-49_316-45del ENSP00000463246.1:n.316-49_316-45del
ENST00000580365.1:n.209-49_209-45del
ENST00000581378.5:c.177-30_177-26del
ENST00000581562.5:n.524+431_524+435del
ENST00000582166.1:n.459-49_459-45del
ENST00000583312.5:c.478-49_478-45del ENSP00000467920.1:n.478-49_478-45del
ENST00000583760.1:n.211_215del
NM_000018.3:c.478-49_478-45del NP_000009.1:n.478-49_478-45del
NM_001033859.2:c.412-49_412-45del NP_001029031.1:n.412-49_412-45del
NM_001270447.1:c.547-49_547-45del NP_001257376.1:n.547-49_547-45del
NM_001270448.1:c.250-49_250-45del NP_001257377.1:n.250-49_250-45del
XM_006721516.2:c.478-49_478-45del XP_006721579.2:n.478-49_478-45del
XM_011523829.1:c.478-49_478-45del XP_011522131.1:n.478-49_478-45del
XM_011523830.1:c.478-49_478-45del XP_011522132.1:n.478-49_478-45del
XR_934021.1:n.585-49_585-45del
XR_934022.1:n.585-49_585-45del
XR_934023.1:n.585-49_585-45del
XM_006721516.3:c.478-49_478-45del XP_006721579.2:n.478-49_478-45del
XM_011523829.2:c.478-49_478-45del XP_011522131.1:n.478-49_478-45del
XM_011523830.2:c.478-49_478-45del XP_011522132.1:n.478-49_478-45del
XM_024450741.1:c.478-49_478-45del XP_024306509.1:n.478-49_478-45del
XR_934021.2:n.537-49_537-45del
XR_934022.2:n.537-49_537-45del
XR_934023.2:n.537-49_537-45del
NM_000018.4:c.478-49_478-45del MANE Select NP_000009.1:n.478-49_478-45del
NM_001033859.3:c.412-49_412-45del NP_001029031.1:n.412-49_412-45del
NM_001270447.2:c.547-49_547-45del NP_001257376.1:n.547-49_547-45del
NM_001270448.2:c.250-49_250-45del NP_001257377.1:n.250-49_250-45del
Search 100 bp 5'
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