Canonical Allele Identifier: CA2635781575
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221922-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221924del , CM000679.2:g.7221924del GRCh38
NC_000017.10:g.7125243del , CM000679.1:g.7125243del GRCh37
NC_000017.9:g.7065967del NCBI36
NG_007975.1:g.7091del
NG_008391.2:g.3128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623-28del MANE Select ENSP00000349297.5:n.623-28del
ENST00000322910.9:c.*578-28del ENSP00000325395.5:n.*578-28del
ENST00000350303.9:c.557-28del ENSP00000344152.5:n.557-28del
ENST00000356839.9:c.623-28del ENSP00000349297.5:n.623-28del
ENST00000543245.6:c.692-28del ENSP00000438689.2:n.692-28del
ENST00000577191.5:n.700-28del
ENST00000577857.5:n.439-28del
ENST00000579286.5:n.804-28del
ENST00000579886.2:c.461-28del ENSP00000463246.1:n.461-28del
ENST00000580365.1:n.354-28del
ENST00000581378.5:c.341-28del
ENST00000581562.5:n.525-28del
ENST00000583312.5:c.623-13del ENSP00000467920.1:n.623-13del
ENST00000583760.1:n.405-28del
NM_000018.3:c.623-28del NP_000009.1:n.623-28del
NM_001033859.2:c.557-28del NP_001029031.1:n.557-28del
NM_001270447.1:c.692-28del NP_001257376.1:n.692-28del
NM_001270448.1:c.395-28del NP_001257377.1:n.395-28del
XM_006721516.2:c.623-28del XP_006721579.2:n.623-28del
XM_011523829.1:c.623-28del XP_011522131.1:n.623-28del
XM_011523830.1:c.623-28del XP_011522132.1:n.623-28del
XR_934021.1:n.730-28del
XR_934022.1:n.730-28del
XR_934023.1:n.730-28del
XM_006721516.3:c.623-28del XP_006721579.2:n.623-28del
XM_011523829.2:c.623-28del XP_011522131.1:n.623-28del
XM_011523830.2:c.623-28del XP_011522132.1:n.623-28del
XM_024450741.1:c.623-28del XP_024306509.1:n.623-28del
XR_934021.2:n.682-28del
XR_934022.2:n.682-28del
XR_934023.2:n.682-28del
NM_000018.4:c.623-28del MANE Select NP_000009.1:n.623-28del
NM_001033859.3:c.557-28del NP_001029031.1:n.557-28del
NM_001270447.2:c.692-28del NP_001257376.1:n.692-28del
NM_001270448.2:c.395-28del NP_001257377.1:n.395-28del
Search 100 bp 5'
Search 100 bp 3'