Canonical Allele Identifier: CA16041859
Gene: ACADVL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371068
ClinVar RCV Id: RCV000410821
dbSNP Id: rs1057516979

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220796_7220797del , CM000679.2:g.7220796_7220797del GRCh38
NC_000017.10:g.7124115_7124116del , CM000679.1:g.7124115_7124116del GRCh37
NC_000017.9:g.7064839_7064840del NCBI36
NG_007975.1:g.5963_5964del
NG_008391.2:g.4255_4256del

Transcript Alleles

HGVS Amino-acid change
NM_000018.3:c.308_309del VV NP_000009.1:p.Lys103ArgfsTer20
NM_001033859.2:c.242_243del VV NP_001029031.1:p.Lys81ArgfsTer20
NM_001270447.1:c.377_378del VV NP_001257376.1:p.Lys126ArgfsTer20
NM_001270448.1:c.80_81del VV NP_001257377.1:p.Lys27ArgfsTer20
XM_006721516.2:c.308_309del XP_006721579.2:p.Lys103ArgfsTer20
XM_011523829.1:c.308_309del XP_011522131.1:p.Lys103ArgfsTer20
XM_011523830.1:c.308_309del XP_011522132.1:p.Lys103ArgfsTer20
XR_934021.1:n.415_416del
XR_934022.1:n.415_416del
XR_934023.1:n.415_416del
XM_006721516.3:c.308_309del
XM_011523829.2:c.308_309del
XM_011523830.2:c.308_309del
XM_024450741.1:c.308_309del XP_024306509.1:p.Lys103ArgfsTer20
XR_934021.2:n.367_368del
XR_934022.2:n.367_368del
XR_934023.2:n.367_368del
ENST00000322910.9:c.*263_*264del ENSP00000325395.5:p.=
ENST00000350303.9:c.242_243del ENSP00000344152.5:p.Lys81ArgfsTer20
ENST00000356839.9:c.308_309del ENSP00000349297.5:p.Lys103ArgfsTer20
ENST00000543245.6:c.377_378del ENSP00000438689.2:p.Lys126ArgfsTer20
ENST00000577191.5:n.385_386del
ENST00000577433.5:n.516_517del
ENST00000577857.5:n.259_260del
ENST00000579286.5:n.489_490del
ENST00000579886.2:c.202-149_202-148del ENSP00000463246.1:p.=
ENST00000580365.1:n.39_40del
ENST00000581378.5:n.7_8del
ENST00000581562.5:n.355_356del
ENST00000582056.5:n.398_399del
ENST00000582166.1:n.196_197del
ENST00000582356.5:n.507_508del
ENST00000583312.5:c.308_309del ENSP00000467920.1:p.Lys103ArgfsTer20
ENST00000584103.5:c.308_309del ENSP00000465353.1:p.Lys103ArgfsTer?