Canonical Allele Identifier: CA2963292656
Community Standard Title: NM_000018.4(ACADVL):c.23_24del (p.Ala8GlufsTer?)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220007_7220008del , CM000679.2:g.7220007_7220008del GRCh38
NC_000017.10:g.7123326_7123327del , CM000679.1:g.7123326_7123327del GRCh37
NC_000017.9:g.7064050_7064051del NCBI36
NG_007975.1:g.5174_5175del
NG_008391.2:g.5045_5046del

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.23_24del (ACADVL) MANE Select NP_000009.1:p.Ala8GlufsTer?
ENST00000356839.10:c.23_24del (ACADVL) MANE Select ENSP00000349297.5:p.Ala8GlufsTer?
NM_000018.3:c.23_24del (ACADVL) NP_000009.1:p.Ala8GlufsTer?
NM_001033859.2:c.23_24del (ACADVL) NP_001029031.1:p.Ala8GlufsTer?
NM_001033859.3:c.23_24del (ACADVL) NP_001029031.1:p.Ala8GlufsTer?
NM_001270447.1:c.132-115_132-114del (ACADVL) NP_001257376.1:n.132-115_132-114del
NM_001270447.2:c.132-115_132-114del (ACADVL) NP_001257376.1:n.132-115_132-114del
NM_001270448.1:c.-281_-280del (ACADVL) NP_001257377.1:n.-281_-280del
NM_001270448.2:c.-281_-280del (ACADVL) NP_001257377.1:n.-281_-280del
NM_001321074.1:c.-1157_-1156del (DLG4) NP_001308003.1:n.-1157_-1156del
NM_001365.3:c.-1157_-1156del (DLG4) NP_001356.1:n.-1157_-1156del
NM_001365.4:c.-1157_-1156del (DLG4) NP_001356.1:n.-1157_-1156del
NR_135527.1:n.45_46del (DLG4)
ENST00000322910.9:c.23_24del (ACADVL) ENSP00000325395.5:p.Ala8GlufsTer17
ENST00000350303.9:c.23_24del (ACADVL) ENSP00000344152.5:p.Ala8GlufsTer?
ENST00000356839.9:c.23_24del (ACADVL) ENSP00000349297.5:p.Ala8GlufsTer?
ENST00000543245.6:c.132-115_132-114del (ACADVL) ENSP00000438689.2:n.132-115_132-114del
ENST00000577191.5:n.100_101del (ACADVL)
ENST00000577857.5:n.113_114del (ACADVL)
ENST00000578269.5:n.130_131del (ACADVL)
ENST00000578421.1:n.82_83del (ACADVL)
ENST00000579286.5:n.130_131del (ACADVL)
ENST00000579886.2:c.23_24del (ACADVL) ENSP00000463246.1:p.Ala8GlufsTer?
ENST00000580263.5:n.113_114del (ACADVL)
ENST00000581562.5:n.70_71del (ACADVL)
ENST00000582056.5:n.113_114del (ACADVL)
ENST00000582356.5:n.148_149del (ACADVL)
ENST00000583312.5:c.23_24del (ACADVL) ENSP00000467920.1:p.Ala8GlufsTer?
ENST00000584103.5:c.23_24del (ACADVL) ENSP00000465353.1:p.Ala8GlufsTer?
XM_006721516.2:c.23_24del (ACADVL) XP_006721579.2:p.Ala8GlufsTer?
XM_006721516.3:c.23_24del (ACADVL) XP_006721579.2:p.Ala8GlufsTer?
XM_011523829.1:c.23_24del (ACADVL) XP_011522131.1:p.Ala8GlufsTer?
XM_011523829.2:c.23_24del (ACADVL) XP_011522131.1:p.Ala8GlufsTer?
XM_011523830.1:c.23_24del (ACADVL) XP_011522132.1:p.Ala8GlufsTer?
XM_011523830.2:c.23_24del (ACADVL) XP_011522132.1:p.Ala8GlufsTer?
XM_024450741.1:c.23_24del (ACADVL) XP_024306509.1:p.Ala8GlufsTer?
XR_934021.1:n.130_131del (ACADVL)
XR_934021.2:n.82_83del (ACADVL)
XR_934022.1:n.130_131del (ACADVL)
XR_934022.2:n.82_83del (ACADVL)
XR_934023.1:n.130_131del (ACADVL)
XR_934023.2:n.82_83del (ACADVL)