Canonical Allele Identifier: CA287436025
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs78100429
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221432_7221441del , CM000679.2:g.7221432_7221441del GRCh38
NC_000017.10:g.7124751_7124760del , CM000679.1:g.7124751_7124760del GRCh37
NC_000017.9:g.7065475_7065484del NCBI36
NG_007975.1:g.6599_6608del
NG_008391.2:g.3611_3620del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-106_478-97del MANE Select ENSP00000349297.5:n.478-106_478-97del
ENST00000322910.9:c.*433-106_*433-97del ENSP00000325395.5:n.*433-106_*433-97del
ENST00000350303.9:c.412-106_412-97del ENSP00000344152.5:n.412-106_412-97del
ENST00000356839.9:c.478-106_478-97del ENSP00000349297.5:n.478-106_478-97del
ENST00000543245.6:c.547-106_547-97del ENSP00000438689.2:n.547-106_547-97del
ENST00000577191.5:n.555-106_555-97del
ENST00000577433.5:n.686-106_686-97del
ENST00000577857.5:n.294-106_294-97del
ENST00000579286.5:n.659-106_659-97del
ENST00000579886.2:c.316-106_316-97del ENSP00000463246.1:n.316-106_316-97del
ENST00000580365.1:n.209-106_209-97del
ENST00000581378.5:c.177-87_177-78del
ENST00000581562.5:n.524+374_524+383del
ENST00000582166.1:n.459-106_459-97del
ENST00000583312.5:c.478-106_478-97del ENSP00000467920.1:n.478-106_478-97del
ENST00000583760.1:n.154_163del
NM_000018.3:c.478-106_478-97del NP_000009.1:n.478-106_478-97del
NM_001033859.2:c.412-106_412-97del NP_001029031.1:n.412-106_412-97del
NM_001270447.1:c.547-106_547-97del NP_001257376.1:n.547-106_547-97del
NM_001270448.1:c.250-106_250-97del NP_001257377.1:n.250-106_250-97del
XM_006721516.2:c.478-106_478-97del XP_006721579.2:n.478-106_478-97del
XM_011523829.1:c.478-106_478-97del XP_011522131.1:n.478-106_478-97del
XM_011523830.1:c.478-106_478-97del XP_011522132.1:n.478-106_478-97del
XR_934021.1:n.585-106_585-97del
XR_934022.1:n.585-106_585-97del
XR_934023.1:n.585-106_585-97del
XM_006721516.3:c.478-106_478-97del XP_006721579.2:n.478-106_478-97del
XM_011523829.2:c.478-106_478-97del XP_011522131.1:n.478-106_478-97del
XM_011523830.2:c.478-106_478-97del XP_011522132.1:n.478-106_478-97del
XM_024450741.1:c.478-106_478-97del XP_024306509.1:n.478-106_478-97del
XR_934021.2:n.537-106_537-97del
XR_934022.2:n.537-106_537-97del
XR_934023.2:n.537-106_537-97del
NM_000018.4:c.478-106_478-97del MANE Select NP_000009.1:n.478-106_478-97del
NM_001033859.3:c.412-106_412-97del NP_001029031.1:n.412-106_412-97del
NM_001270447.2:c.547-106_547-97del NP_001257376.1:n.547-106_547-97del
NM_001270448.2:c.250-106_250-97del NP_001257377.1:n.250-106_250-97del
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