Canonical Allele Identifier: CA2635783046
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222692-A-ATC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222693_7222694dup , CM000679.2:g.7222693_7222694dup GRCh38
NC_000017.10:g.7126012_7126013dup , CM000679.1:g.7126012_7126013dup GRCh37
NC_000017.9:g.7066736_7066737dup NCBI36
NG_007975.1:g.7860_7861dup
NG_008391.2:g.2357_2358dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.905_906dup MANE Select ENSP00000349297.5:p.Lys303SerfsTer?
ENST00000322910.9:c.*860_*861dup ENSP00000325395.5:n.*860_*861dup
ENST00000350303.9:c.839_840dup ENSP00000344152.5:p.Lys281SerfsTer?
ENST00000356839.9:c.905_906dup ENSP00000349297.5:p.Lys303SerfsTer?
ENST00000543245.6:c.974_975dup ENSP00000438689.2:p.Lys326SerfsTer?
ENST00000578824.5:n.54_55dup
ENST00000581378.5:c.623_624dup
ENST00000582379.1:n.289_290dup
NM_000018.3:c.905_906dup NP_000009.1:p.Lys303SerfsTer?
NM_001033859.2:c.839_840dup NP_001029031.1:p.Lys281SerfsTer?
NM_001270447.1:c.974_975dup NP_001257376.1:p.Lys326SerfsTer?
NM_001270448.1:c.677_678dup NP_001257377.1:p.Lys227SerfsTer?
XM_006721516.2:c.905_906dup XP_006721579.2:p.Lys303SerfsTer?
XM_011523829.1:c.905_906dup XP_011522131.1:p.Lys303SerfsTer?
XM_011523830.1:c.905_906dup XP_011522132.1:p.Lys303SerfsTer?
XR_934021.1:n.1012_1013dup
XR_934022.1:n.1012_1013dup
XR_934023.1:n.1012_1013dup
XM_006721516.3:c.905_906dup XP_006721579.2:p.Lys303SerfsTer?
XM_011523829.2:c.905_906dup XP_011522131.1:p.Lys303SerfsTer?
XM_011523830.2:c.905_906dup XP_011522132.1:p.Lys303SerfsTer?
XM_024450741.1:c.905_906dup XP_024306509.1:p.Lys303SerfsTer?
XR_934021.2:n.964_965dup
XR_934022.2:n.964_965dup
XR_934023.2:n.964_965dup
NM_000018.4:c.905_906dup MANE Select NP_000009.1:p.Lys303SerfsTer?
NM_001033859.3:c.839_840dup NP_001029031.1:p.Lys281SerfsTer?
NM_001270447.2:c.974_975dup NP_001257376.1:p.Lys326SerfsTer?
NM_001270448.2:c.677_678dup NP_001257377.1:p.Lys227SerfsTer?
Search 100 bp 5'
Search 100 bp 3'