Canonical Allele Identifier: CA397722989
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221518_7221519del , CM000679.2:g.7221518_7221519del GRCh38
NC_000017.10:g.7124837_7124838del , CM000679.1:g.7124837_7124838del GRCh37
NC_000017.9:g.7065561_7065562del NCBI36
NG_007975.1:g.6685_6686del
NG_008391.2:g.3533_3534del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-20_478-19del MANE Select ENSP00000349297.5:n.478-20_478-19del
ENST00000322910.9:c.*433-20_*433-19del ENSP00000325395.5:n.*433-20_*433-19del
ENST00000350303.9:c.412-20_412-19del ENSP00000344152.5:n.412-20_412-19del
ENST00000356839.9:c.478-20_478-19del ENSP00000349297.5:n.478-20_478-19del
ENST00000543245.6:c.547-20_547-19del ENSP00000438689.2:n.547-20_547-19del
ENST00000577191.5:n.555-20_555-19del
ENST00000577433.5:n.686-20_686-19del
ENST00000577857.5:n.294-20_294-19del
ENST00000579286.5:n.659-20_659-19del
ENST00000579886.2:c.316-20_316-19del ENSP00000463246.1:n.316-20_316-19del
ENST00000580365.1:n.209-20_209-19del
ENST00000581378.5:c.177-1_177del
ENST00000581562.5:n.525-434_525-433del
ENST00000582166.1:n.459-20_459-19del
ENST00000583312.5:c.478-20_478-19del ENSP00000467920.1:n.478-20_478-19del
ENST00000583760.1:n.240_241del
NM_000018.3:c.478-20_478-19del NP_000009.1:n.478-20_478-19del
NM_001033859.2:c.412-20_412-19del NP_001029031.1:n.412-20_412-19del
NM_001270447.1:c.547-20_547-19del NP_001257376.1:n.547-20_547-19del
NM_001270448.1:c.250-20_250-19del NP_001257377.1:n.250-20_250-19del
XM_006721516.2:c.478-20_478-19del XP_006721579.2:n.478-20_478-19del
XM_011523829.1:c.478-20_478-19del XP_011522131.1:n.478-20_478-19del
XM_011523830.1:c.478-20_478-19del XP_011522132.1:n.478-20_478-19del
XR_934021.1:n.585-20_585-19del
XR_934022.1:n.585-20_585-19del
XR_934023.1:n.585-20_585-19del
XM_006721516.3:c.478-20_478-19del XP_006721579.2:n.478-20_478-19del
XM_011523829.2:c.478-20_478-19del XP_011522131.1:n.478-20_478-19del
XM_011523830.2:c.478-20_478-19del XP_011522132.1:n.478-20_478-19del
XM_024450741.1:c.478-20_478-19del XP_024306509.1:n.478-20_478-19del
XR_934021.2:n.537-20_537-19del
XR_934022.2:n.537-20_537-19del
XR_934023.2:n.537-20_537-19del
NM_000018.4:c.478-20_478-19del MANE Select NP_000009.1:n.478-20_478-19del
NM_001033859.3:c.412-20_412-19del NP_001029031.1:n.412-20_412-19del
NM_001270447.2:c.547-20_547-19del NP_001257376.1:n.547-20_547-19del
NM_001270448.2:c.250-20_250-19del NP_001257377.1:n.250-20_250-19del