Canonical Allele Identifier: CA2635781041
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221418-GGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221419_7221420del , CM000679.2:g.7221419_7221420del GRCh38
NC_000017.10:g.7124738_7124739del , CM000679.1:g.7124738_7124739del GRCh37
NC_000017.9:g.7065462_7065463del NCBI36
NG_007975.1:g.6586_6587del
NG_008391.2:g.3631_3632del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478-119_478-118del MANE Select ENSP00000349297.5:n.478-119_478-118del
ENST00000322910.9:c.*433-119_*433-118del ENSP00000325395.5:n.*433-119_*433-118del
ENST00000350303.9:c.412-119_412-118del ENSP00000344152.5:n.412-119_412-118del
ENST00000356839.9:c.478-119_478-118del ENSP00000349297.5:n.478-119_478-118del
ENST00000543245.6:c.547-119_547-118del ENSP00000438689.2:n.547-119_547-118del
ENST00000577191.5:n.555-119_555-118del
ENST00000577433.5:n.686-119_686-118del
ENST00000577857.5:n.294-119_294-118del
ENST00000579286.5:n.659-119_659-118del
ENST00000579886.2:c.316-119_316-118del ENSP00000463246.1:n.316-119_316-118del
ENST00000580365.1:n.209-119_209-118del
ENST00000581378.5:c.177-100_177-99del
ENST00000581562.5:n.524+361_524+362del
ENST00000582166.1:n.459-119_459-118del
ENST00000583312.5:c.478-119_478-118del ENSP00000467920.1:n.478-119_478-118del
ENST00000583760.1:n.141_142del
NM_000018.3:c.478-119_478-118del NP_000009.1:n.478-119_478-118del
NM_001033859.2:c.412-119_412-118del NP_001029031.1:n.412-119_412-118del
NM_001270447.1:c.547-119_547-118del NP_001257376.1:n.547-119_547-118del
NM_001270448.1:c.250-119_250-118del NP_001257377.1:n.250-119_250-118del
XM_006721516.2:c.478-119_478-118del XP_006721579.2:n.478-119_478-118del
XM_011523829.1:c.478-119_478-118del XP_011522131.1:n.478-119_478-118del
XM_011523830.1:c.478-119_478-118del XP_011522132.1:n.478-119_478-118del
XR_934021.1:n.585-119_585-118del
XR_934022.1:n.585-119_585-118del
XR_934023.1:n.585-119_585-118del
XM_006721516.3:c.478-119_478-118del XP_006721579.2:n.478-119_478-118del
XM_011523829.2:c.478-119_478-118del XP_011522131.1:n.478-119_478-118del
XM_011523830.2:c.478-119_478-118del XP_011522132.1:n.478-119_478-118del
XM_024450741.1:c.478-119_478-118del XP_024306509.1:n.478-119_478-118del
XR_934021.2:n.537-119_537-118del
XR_934022.2:n.537-119_537-118del
XR_934023.2:n.537-119_537-118del
NM_000018.4:c.478-119_478-118del MANE Select NP_000009.1:n.478-119_478-118del
NM_001033859.3:c.412-119_412-118del NP_001029031.1:n.412-119_412-118del
NM_001270447.2:c.547-119_547-118del NP_001257376.1:n.547-119_547-118del
NM_001270448.2:c.250-119_250-118del NP_001257377.1:n.250-119_250-118del
Search 100 bp 5'
Search 100 bp 3'