Canonical Allele Identifier: CA251904
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs387906251

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220969_7220971del , CM000679.2:g.7220969_7220971del GRCh38
NC_000017.10:g.7124288_7124290del , CM000679.1:g.7124288_7124290del GRCh37
NC_000017.9:g.7065012_7065014del NCBI36
NG_007975.1:g.6136_6138del
NG_008391.2:g.4084_4086del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.388_390del MANE Select ENSP00000349297.5:p.Glu130del
ENST00000322910.9:c.*343_*345del ENSP00000325395.5:n.*343_*345del
ENST00000350303.9:c.322_324del ENSP00000344152.5:p.Glu108del
ENST00000356839.9:c.388_390del ENSP00000349297.5:p.Glu130del
ENST00000543245.6:c.457_459del ENSP00000438689.2:p.Glu153del
ENST00000577191.5:n.465_467del
ENST00000577433.5:n.596_598del
ENST00000577857.5:n.293+139_293+141del
ENST00000579286.5:n.569_571del
ENST00000579886.2:c.226_228del ENSP00000463246.1:p.Glu76del
ENST00000580365.1:n.119_121del
ENST00000581378.5:c.87_89del
ENST00000581562.5:n.435_437del
ENST00000582056.5:n.571_573del
ENST00000582166.1:n.369_371del
ENST00000583312.5:c.388_390del ENSP00000467920.1:p.Glu130del
ENST00000584103.5:c.421_423del ENSP00000465353.1:p.Glu141del
NM_000018.3:c.388_390del NP_000009.1:p.Glu130del
NM_001033859.2:c.322_324del NP_001029031.1:p.Glu108del
NM_001270447.1:c.457_459del NP_001257376.1:p.Glu153del
NM_001270448.1:c.160_162del NP_001257377.1:p.Glu54del
XM_006721516.2:c.388_390del XP_006721579.2:p.Glu130del
XM_011523829.1:c.388_390del XP_011522131.1:p.Glu130del
XM_011523830.1:c.388_390del XP_011522132.1:p.Glu130del
XR_934021.1:n.495_497del
XR_934022.1:n.495_497del
XR_934023.1:n.495_497del
XM_006721516.3:c.388_390del XP_006721579.2:p.Glu130del
XM_011523829.2:c.388_390del XP_011522131.1:p.Glu130del
XM_011523830.2:c.388_390del XP_011522132.1:p.Glu130del
XM_024450741.1:c.388_390del XP_024306509.1:p.Glu130del
XR_934021.2:n.447_449del
XR_934022.2:n.447_449del
XR_934023.2:n.447_449del
NM_000018.4:c.388_390del MANE Select NP_000009.1:p.Glu130del
NM_001033859.3:c.322_324del NP_001029031.1:p.Glu108del
NM_001270447.2:c.457_459del NP_001257376.1:p.Glu153del
NM_001270448.2:c.160_162del NP_001257377.1:p.Glu54del