Canonical Allele Identifier: CA2635781098
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221433_7221434del , CM000679.2:g.7221433_7221434del GRCh38
NC_000017.10:g.7124752_7124753del , CM000679.1:g.7124752_7124753del GRCh37
NC_000017.9:g.7065476_7065477del NCBI36
NG_007975.1:g.6600_6601del
NG_008391.2:g.3617_3618del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-105_478-104del MANE Select ENSP00000349297.5:n.478-105_478-104del
ENST00000322910.9:c.*433-105_*433-104del ENSP00000325395.5:n.*433-105_*433-104del
ENST00000350303.9:c.412-105_412-104del ENSP00000344152.5:n.412-105_412-104del
ENST00000356839.9:c.478-105_478-104del ENSP00000349297.5:n.478-105_478-104del
ENST00000543245.6:c.547-105_547-104del ENSP00000438689.2:n.547-105_547-104del
ENST00000577191.5:n.555-105_555-104del
ENST00000577433.5:n.686-105_686-104del
ENST00000577857.5:n.294-105_294-104del
ENST00000579286.5:n.659-105_659-104del
ENST00000579886.2:c.316-105_316-104del ENSP00000463246.1:n.316-105_316-104del
ENST00000580365.1:n.209-105_209-104del
ENST00000581378.5:c.177-86_177-85del
ENST00000581562.5:n.524+375_524+376del
ENST00000582166.1:n.459-105_459-104del
ENST00000583312.5:c.478-105_478-104del ENSP00000467920.1:n.478-105_478-104del
ENST00000583760.1:n.155_156del
NM_000018.3:c.478-105_478-104del NP_000009.1:n.478-105_478-104del
NM_001033859.2:c.412-105_412-104del NP_001029031.1:n.412-105_412-104del
NM_001270447.1:c.547-105_547-104del NP_001257376.1:n.547-105_547-104del
NM_001270448.1:c.250-105_250-104del NP_001257377.1:n.250-105_250-104del
XM_006721516.2:c.478-105_478-104del XP_006721579.2:n.478-105_478-104del
XM_011523829.1:c.478-105_478-104del XP_011522131.1:n.478-105_478-104del
XM_011523830.1:c.478-105_478-104del XP_011522132.1:n.478-105_478-104del
XR_934021.1:n.585-105_585-104del
XR_934022.1:n.585-105_585-104del
XR_934023.1:n.585-105_585-104del
XM_006721516.3:c.478-105_478-104del XP_006721579.2:n.478-105_478-104del
XM_011523829.2:c.478-105_478-104del XP_011522131.1:n.478-105_478-104del
XM_011523830.2:c.478-105_478-104del XP_011522132.1:n.478-105_478-104del
XM_024450741.1:c.478-105_478-104del XP_024306509.1:n.478-105_478-104del
XR_934021.2:n.537-105_537-104del
XR_934022.2:n.537-105_537-104del
XR_934023.2:n.537-105_537-104del
NM_000018.4:c.478-105_478-104del MANE Select NP_000009.1:n.478-105_478-104del
NM_001033859.3:c.412-105_412-104del NP_001029031.1:n.412-105_412-104del
NM_001270447.2:c.547-105_547-104del NP_001257376.1:n.547-105_547-104del
NM_001270448.2:c.250-105_250-104del NP_001257377.1:n.250-105_250-104del