Canonical Allele Identifier: CA2245700729
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071248696
gnomAD v4: 17-7221913-T-TCATC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221914_7221917dup , CM000679.2:g.7221914_7221917dup GRCh38
NC_000017.10:g.7125233_7125236dup , CM000679.1:g.7125233_7125236dup GRCh37
NC_000017.9:g.7065957_7065960dup NCBI36
NG_007975.1:g.7081_7084dup
NG_008391.2:g.3134_3137dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623-38_623-35dup MANE Select ENSP00000349297.5:n.623-38_623-35dup
ENST00000322910.9:c.*578-38_*578-35dup ENSP00000325395.5:n.*578-38_*578-35dup
ENST00000350303.9:c.557-38_557-35dup ENSP00000344152.5:n.557-38_557-35dup
ENST00000356839.9:c.623-38_623-35dup ENSP00000349297.5:n.623-38_623-35dup
ENST00000543245.6:c.692-38_692-35dup ENSP00000438689.2:n.692-38_692-35dup
ENST00000577191.5:n.700-38_700-35dup
ENST00000577857.5:n.439-38_439-35dup
ENST00000579286.5:n.804-38_804-35dup
ENST00000579886.2:c.461-38_461-35dup ENSP00000463246.1:n.461-38_461-35dup
ENST00000580365.1:n.354-38_354-35dup
ENST00000581378.5:c.341-38_341-35dup
ENST00000581562.5:n.525-38_525-35dup
ENST00000583312.5:c.623-23_623-20dup ENSP00000467920.1:n.623-23_623-20dup
ENST00000583760.1:n.405-38_405-35dup
NM_000018.3:c.623-38_623-35dup NP_000009.1:n.623-38_623-35dup
NM_001033859.2:c.557-38_557-35dup NP_001029031.1:n.557-38_557-35dup
NM_001270447.1:c.692-38_692-35dup NP_001257376.1:n.692-38_692-35dup
NM_001270448.1:c.395-38_395-35dup NP_001257377.1:n.395-38_395-35dup
XM_006721516.2:c.623-38_623-35dup XP_006721579.2:n.623-38_623-35dup
XM_011523829.1:c.623-38_623-35dup XP_011522131.1:n.623-38_623-35dup
XM_011523830.1:c.623-38_623-35dup XP_011522132.1:n.623-38_623-35dup
XR_934021.1:n.730-38_730-35dup
XR_934022.1:n.730-38_730-35dup
XR_934023.1:n.730-38_730-35dup
XM_006721516.3:c.623-38_623-35dup XP_006721579.2:n.623-38_623-35dup
XM_011523829.2:c.623-38_623-35dup XP_011522131.1:n.623-38_623-35dup
XM_011523830.2:c.623-38_623-35dup XP_011522132.1:n.623-38_623-35dup
XM_024450741.1:c.623-38_623-35dup XP_024306509.1:n.623-38_623-35dup
XR_934021.2:n.682-38_682-35dup
XR_934022.2:n.682-38_682-35dup
XR_934023.2:n.682-38_682-35dup
NM_000018.4:c.623-38_623-35dup MANE Select NP_000009.1:n.623-38_623-35dup
NM_001033859.3:c.557-38_557-35dup NP_001029031.1:n.557-38_557-35dup
NM_001270447.2:c.692-38_692-35dup NP_001257376.1:n.692-38_692-35dup
NM_001270448.2:c.395-38_395-35dup NP_001257377.1:n.395-38_395-35dup
Search 100 bp 5'
Search 100 bp 3'