Canonical Allele Identifier: CA2635781127
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221436_7221439del , CM000679.2:g.7221436_7221439del GRCh38
NC_000017.10:g.7124755_7124758del , CM000679.1:g.7124755_7124758del GRCh37
NC_000017.9:g.7065479_7065482del NCBI36
NG_007975.1:g.6603_6606del
NG_008391.2:g.3612_3615del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.478-102_478-99del MANE Select ENSP00000349297.5:n.478-102_478-99del
ENST00000322910.9:c.*433-102_*433-99del ENSP00000325395.5:n.*433-102_*433-99del
ENST00000350303.9:c.412-102_412-99del ENSP00000344152.5:n.412-102_412-99del
ENST00000356839.9:c.478-102_478-99del ENSP00000349297.5:n.478-102_478-99del
ENST00000543245.6:c.547-102_547-99del ENSP00000438689.2:n.547-102_547-99del
ENST00000577191.5:n.555-102_555-99del
ENST00000577433.5:n.686-102_686-99del
ENST00000577857.5:n.294-102_294-99del
ENST00000579286.5:n.659-102_659-99del
ENST00000579886.2:c.316-102_316-99del ENSP00000463246.1:n.316-102_316-99del
ENST00000580365.1:n.209-102_209-99del
ENST00000581378.5:c.177-83_177-80del
ENST00000581562.5:n.524+378_524+381del
ENST00000582166.1:n.459-102_459-99del
ENST00000583312.5:c.478-102_478-99del ENSP00000467920.1:n.478-102_478-99del
ENST00000583760.1:n.158_161del
NM_000018.3:c.478-102_478-99del NP_000009.1:n.478-102_478-99del
NM_001033859.2:c.412-102_412-99del NP_001029031.1:n.412-102_412-99del
NM_001270447.1:c.547-102_547-99del NP_001257376.1:n.547-102_547-99del
NM_001270448.1:c.250-102_250-99del NP_001257377.1:n.250-102_250-99del
XM_006721516.2:c.478-102_478-99del XP_006721579.2:n.478-102_478-99del
XM_011523829.1:c.478-102_478-99del XP_011522131.1:n.478-102_478-99del
XM_011523830.1:c.478-102_478-99del XP_011522132.1:n.478-102_478-99del
XR_934021.1:n.585-102_585-99del
XR_934022.1:n.585-102_585-99del
XR_934023.1:n.585-102_585-99del
XM_006721516.3:c.478-102_478-99del XP_006721579.2:n.478-102_478-99del
XM_011523829.2:c.478-102_478-99del XP_011522131.1:n.478-102_478-99del
XM_011523830.2:c.478-102_478-99del XP_011522132.1:n.478-102_478-99del
XM_024450741.1:c.478-102_478-99del XP_024306509.1:n.478-102_478-99del
XR_934021.2:n.537-102_537-99del
XR_934022.2:n.537-102_537-99del
XR_934023.2:n.537-102_537-99del
NM_000018.4:c.478-102_478-99del MANE Select NP_000009.1:n.478-102_478-99del
NM_001033859.3:c.412-102_412-99del NP_001029031.1:n.412-102_412-99del
NM_001270447.2:c.547-102_547-99del NP_001257376.1:n.547-102_547-99del
NM_001270448.2:c.250-102_250-99del NP_001257377.1:n.250-102_250-99del