Canonical Allele Identifier: CA658824830

Linked Data

ClinVar Variation Id: 557638
ClinVar RCV Id: RCV000673805
dbSNP Id: rs1555527464
MyVariant Identifiers: chr17:g.7220017del (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220017del , CM000679.2:g.7220017del GRCh38
NC_000017.10:g.7123336del , CM000679.1:g.7123336del GRCh37
NC_000017.9:g.7064060del NCBI36
NG_007975.1:g.5184del
NG_008391.2:g.5037del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.33del (ACADVL) MANE Select ENSP00000349297.5:p.Arg12GlyfsTer4
ENST00000322910.9:c.33del (ACADVL) ENSP00000325395.5:p.Arg12GlyfsTer4
ENST00000350303.9:c.33del (ACADVL) ENSP00000344152.5:p.Arg12GlyfsTer4
ENST00000356839.9:c.33del (ACADVL) ENSP00000349297.5:p.Arg12GlyfsTer4
ENST00000543245.6:c.132-105del (ACADVL) ENSP00000438689.2:n.132-105del
ENST00000577191.5:n.110del (ACADVL)
ENST00000577857.5:n.123del (ACADVL)
ENST00000578269.5:n.140del (ACADVL)
ENST00000578421.1:n.92del (ACADVL)
ENST00000579286.5:n.140del (ACADVL)
ENST00000579886.2:c.33del (ACADVL) ENSP00000463246.1:p.Arg12GlyfsTer4
ENST00000580263.5:n.123del (ACADVL)
ENST00000581562.5:n.80del (ACADVL)
ENST00000582056.5:n.123del (ACADVL)
ENST00000582356.5:n.158del (ACADVL)
ENST00000583312.5:c.33del (ACADVL) ENSP00000467920.1:p.Arg12GlyfsTer4
ENST00000584103.5:c.33del (ACADVL) ENSP00000465353.1:p.Arg12GlyfsTer4
NM_000018.3:c.33del (ACADVL) NP_000009.1:p.Arg12GlyfsTer4
NM_001033859.2:c.33del (ACADVL) NP_001029031.1:p.Arg12GlyfsTer4
NM_001270447.1:c.132-105del (ACADVL) NP_001257376.1:n.132-105del
NM_001270448.1:c.-271del (ACADVL) NP_001257377.1:n.-271del
NM_001365.3:c.-1165del (DLG4) NP_001356.1:n.-1165del
XM_006721516.2:c.33del (ACADVL) XP_006721579.2:p.Arg12GlyfsTer4
XM_011523829.1:c.33del (ACADVL) XP_011522131.1:p.Arg12GlyfsTer4
XM_011523830.1:c.33del (ACADVL) XP_011522132.1:p.Arg12GlyfsTer4
XR_934021.1:n.140del (ACADVL)
XR_934022.1:n.140del (ACADVL)
XR_934023.1:n.140del (ACADVL)
NM_001321074.1:c.-1165del (DLG4) NP_001308003.1:n.-1165del
NM_001365.4:c.-1165del (DLG4) NP_001356.1:n.-1165del
NR_135527.1:n.37del (DLG4)
XM_006721516.3:c.33del (ACADVL) XP_006721579.2:p.Arg12GlyfsTer4
XM_011523829.2:c.33del (ACADVL) XP_011522131.1:p.Arg12GlyfsTer4
XM_011523830.2:c.33del (ACADVL) XP_011522132.1:p.Arg12GlyfsTer4
XM_024450741.1:c.33del (ACADVL) XP_024306509.1:p.Arg12GlyfsTer4
XR_934021.2:n.92del (ACADVL)
XR_934022.2:n.92del (ACADVL)
XR_934023.2:n.92del (ACADVL)
NM_000018.4:c.33del (ACADVL) MANE Select NP_000009.1:p.Arg12GlyfsTer4
NM_001033859.3:c.33del (ACADVL) NP_001029031.1:p.Arg12GlyfsTer4
NM_001270447.2:c.132-105del (ACADVL) NP_001257376.1:n.132-105del
NM_001270448.2:c.-271del (ACADVL) NP_001257377.1:n.-271del