Canonical Allele Identifier: CA2573154560
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1351772
ClinVar RCV Id: RCV002044985
dbSNP Id: rs2142980046
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222726_7222728del , CM000679.2:g.7222726_7222728del GRCh38
NC_000017.10:g.7126045_7126047del , CM000679.1:g.7126045_7126047del GRCh37
NC_000017.9:g.7066769_7066771del NCBI36
NG_007975.1:g.7893_7895del
NG_008391.2:g.2325_2327del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.938_940del MANE Select ENSP00000349297.5:p.Asp313del
ENST00000322910.9:c.*893_*895del ENSP00000325395.5:n.*893_*895del
ENST00000350303.9:c.872_874del ENSP00000344152.5:p.Asp291del
ENST00000356839.9:c.938_940del ENSP00000349297.5:p.Asp313del
ENST00000543245.6:c.1007_1009del ENSP00000438689.2:p.Asp336del
ENST00000578824.5:n.87_89del
ENST00000581378.5:c.656_658del
ENST00000582379.1:n.322_324del
NM_000018.3:c.938_940del NP_000009.1:p.Asp313del
NM_001033859.2:c.872_874del NP_001029031.1:p.Asp291del
NM_001270447.1:c.1007_1009del NP_001257376.1:p.Asp336del
NM_001270448.1:c.710_712del NP_001257377.1:p.Asp237del
XM_006721516.2:c.938_940del XP_006721579.2:p.Asp313del
XM_011523829.1:c.938_940del XP_011522131.1:p.Asp313del
XM_011523830.1:c.938_940del XP_011522132.1:p.Asp313del
XR_934021.1:n.1045_1047del
XR_934022.1:n.1045_1047del
XR_934023.1:n.1045_1047del
XM_006721516.3:c.938_940del XP_006721579.2:p.Asp313del
XM_011523829.2:c.938_940del XP_011522131.1:p.Asp313del
XM_011523830.2:c.938_940del XP_011522132.1:p.Asp313del
XM_024450741.1:c.938_940del XP_024306509.1:p.Asp313del
XR_934021.2:n.997_999del
XR_934022.2:n.997_999del
XR_934023.2:n.997_999del
NM_000018.4:c.938_940del MANE Select NP_000009.1:p.Asp313del
NM_001033859.3:c.872_874del NP_001029031.1:p.Asp291del
NM_001270447.2:c.1007_1009del NP_001257376.1:p.Asp336del
NM_001270448.2:c.710_712del NP_001257377.1:p.Asp237del
Search 100 bp 5'
Search 100 bp 3'