Canonical Allele Identifier: CA2635781091
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221432_7221433del , CM000679.2:g.7221432_7221433del GRCh38
NC_000017.10:g.7124751_7124752del , CM000679.1:g.7124751_7124752del GRCh37
NC_000017.9:g.7065475_7065476del NCBI36
NG_007975.1:g.6599_6600del
NG_008391.2:g.3618_3619del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-106_478-105del MANE Select ENSP00000349297.5:n.478-106_478-105del
ENST00000322910.9:c.*433-106_*433-105del ENSP00000325395.5:n.*433-106_*433-105del
ENST00000350303.9:c.412-106_412-105del ENSP00000344152.5:n.412-106_412-105del
ENST00000356839.9:c.478-106_478-105del ENSP00000349297.5:n.478-106_478-105del
ENST00000543245.6:c.547-106_547-105del ENSP00000438689.2:n.547-106_547-105del
ENST00000577191.5:n.555-106_555-105del
ENST00000577433.5:n.686-106_686-105del
ENST00000577857.5:n.294-106_294-105del
ENST00000579286.5:n.659-106_659-105del
ENST00000579886.2:c.316-106_316-105del ENSP00000463246.1:n.316-106_316-105del
ENST00000580365.1:n.209-106_209-105del
ENST00000581378.5:c.177-87_177-86del
ENST00000581562.5:n.524+374_524+375del
ENST00000582166.1:n.459-106_459-105del
ENST00000583312.5:c.478-106_478-105del ENSP00000467920.1:n.478-106_478-105del
ENST00000583760.1:n.154_155del
NM_000018.3:c.478-106_478-105del NP_000009.1:n.478-106_478-105del
NM_001033859.2:c.412-106_412-105del NP_001029031.1:n.412-106_412-105del
NM_001270447.1:c.547-106_547-105del NP_001257376.1:n.547-106_547-105del
NM_001270448.1:c.250-106_250-105del NP_001257377.1:n.250-106_250-105del
XM_006721516.2:c.478-106_478-105del XP_006721579.2:n.478-106_478-105del
XM_011523829.1:c.478-106_478-105del XP_011522131.1:n.478-106_478-105del
XM_011523830.1:c.478-106_478-105del XP_011522132.1:n.478-106_478-105del
XR_934021.1:n.585-106_585-105del
XR_934022.1:n.585-106_585-105del
XR_934023.1:n.585-106_585-105del
XM_006721516.3:c.478-106_478-105del XP_006721579.2:n.478-106_478-105del
XM_011523829.2:c.478-106_478-105del XP_011522131.1:n.478-106_478-105del
XM_011523830.2:c.478-106_478-105del XP_011522132.1:n.478-106_478-105del
XM_024450741.1:c.478-106_478-105del XP_024306509.1:n.478-106_478-105del
XR_934021.2:n.537-106_537-105del
XR_934022.2:n.537-106_537-105del
XR_934023.2:n.537-106_537-105del
NM_000018.4:c.478-106_478-105del MANE Select NP_000009.1:n.478-106_478-105del
NM_001033859.3:c.412-106_412-105del NP_001029031.1:n.412-106_412-105del
NM_001270447.2:c.547-106_547-105del NP_001257376.1:n.547-106_547-105del
NM_001270448.2:c.250-106_250-105del NP_001257377.1:n.250-106_250-105del