Canonical Allele Identifier: CA16043042
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 373614
ClinVar RCV Id: RCV000412713 RCV002286572
dbSNP Id: rs1057518506
MyVariant Identifiers: chr17:g.7124123_7124132del (hg19) chr17:g.7220804_7220813del (hg38)
ERepo: CA16043042/MONDO:0008723/021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220804_7220813del , CM000679.2:g.7220804_7220813del GRCh38
NC_000017.10:g.7124123_7124132del , CM000679.1:g.7124123_7124132del GRCh37
NC_000017.9:g.7064847_7064856del NCBI36
NG_007975.1:g.5971_5980del
NG_008391.2:g.4241_4250del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.316_325del MANE Select ENSP00000349297.5:p.Val106CysfsTer8
ENST00000322910.9:c.*271_*280del ENSP00000325395.5:n.*271_*280del
ENST00000350303.9:c.250_259del ENSP00000344152.5:p.Val84CysfsTer8
ENST00000356839.9:c.316_325del ENSP00000349297.5:p.Val106CysfsTer8
ENST00000543245.6:c.385_394del ENSP00000438689.2:p.Val129CysfsTer8
ENST00000577191.5:n.393_402del
ENST00000577433.5:n.524_533del
ENST00000577857.5:n.267_276del
ENST00000579286.5:n.497_506del
ENST00000579886.2:c.202-141_202-132del ENSP00000463246.1:n.202-141_202-132del
ENST00000580365.1:n.47_56del
ENST00000581378.5:c.15_24del
ENST00000581562.5:n.363_372del
ENST00000582056.5:n.406_415del
ENST00000582166.1:n.204_213del
ENST00000582356.5:n.515_524del
ENST00000583312.5:c.316_325del ENSP00000467920.1:p.Val106CysfsTer8
ENST00000584103.5:c.316_325del ENSP00000465353.1:p.Val106CysfsTer19
NM_000018.3:c.316_325del NP_000009.1:p.Val106CysfsTer8
NM_001033859.2:c.250_259del NP_001029031.1:p.Val84CysfsTer8
NM_001270447.1:c.385_394del NP_001257376.1:p.Val129CysfsTer8
NM_001270448.1:c.88_97del NP_001257377.1:p.Val30CysfsTer8
XM_006721516.2:c.316_325del XP_006721579.2:p.Val106CysfsTer8
XM_011523829.1:c.316_325del XP_011522131.1:p.Val106CysfsTer8
XM_011523830.1:c.316_325del XP_011522132.1:p.Val106CysfsTer8
XR_934021.1:n.423_432del
XR_934022.1:n.423_432del
XR_934023.1:n.423_432del
XM_006721516.3:c.316_325del XP_006721579.2:p.Val106CysfsTer8
XM_011523829.2:c.316_325del XP_011522131.1:p.Val106CysfsTer8
XM_011523830.2:c.316_325del XP_011522132.1:p.Val106CysfsTer8
XM_024450741.1:c.316_325del XP_024306509.1:p.Val106CysfsTer8
XR_934021.2:n.375_384del
XR_934022.2:n.375_384del
XR_934023.2:n.375_384del
NM_000018.4:c.316_325del MANE Select NP_000009.1:p.Val106CysfsTer8
NM_001033859.3:c.250_259del NP_001029031.1:p.Val84CysfsTer8
NM_001270447.2:c.385_394del NP_001257376.1:p.Val129CysfsTer8
NM_001270448.2:c.88_97del NP_001257377.1:p.Val30CysfsTer8
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