Canonical Allele Identifier: CA287433395

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219921_7219935dup , CM000679.2:g.7219921_7219935dup GRCh38
NC_000017.10:g.7123240_7123254dup , CM000679.1:g.7123240_7123254dup GRCh37
NC_000017.9:g.7063964_7063978dup NCBI36
NG_007975.1:g.5088_5102dup
NG_008391.2:g.5123_5137dup

Transcript Alleles

HGVS Amino-acid Change
NM_000018.3:c.-64_-50dup (ACADVL) NP_000009.1:n.-64_-50dup
NM_001033859.2:c.-64_-50dup (ACADVL) NP_001029031.1:n.-64_-50dup
NM_001270447.1:c.132-201_132-187dup (ACADVL) NP_001257376.1:n.132-201_132-187dup
NM_001270447.2:c.132-201_132-187dup (ACADVL) NP_001257376.1:n.132-201_132-187dup
NM_001270448.1:c.-367_-353dup (ACADVL) NP_001257377.1:n.-367_-353dup
NM_001321074.1:c.-1079_-1065dup (DLG4) NP_001308003.1:n.-1079_-1065dup
NM_001365.3:c.-1079_-1065dup (DLG4) NP_001356.1:n.-1079_-1065dup
NM_001365.4:c.-1079_-1065dup (DLG4) NP_001356.1:n.-1079_-1065dup
NR_135527.1:n.123_137dup (DLG4)
ENST00000322910.9:c.-64_-50dup (ACADVL) ENSP00000325395.5:n.-64_-50dup
ENST00000350303.9:c.-64_-50dup (ACADVL) ENSP00000344152.5:n.-64_-50dup
ENST00000356839.9:c.-64_-50dup (ACADVL) ENSP00000349297.5:n.-64_-50dup
ENST00000543245.6:c.132-201_132-187dup (ACADVL) ENSP00000438689.2:n.132-201_132-187dup
ENST00000577191.5:n.14_28dup (ACADVL)
ENST00000577857.5:n.27_41dup (ACADVL)
ENST00000578269.5:n.44_58dup (ACADVL)
ENST00000579286.5:n.44_58dup (ACADVL)
ENST00000580263.5:n.27_41dup (ACADVL)
ENST00000582056.5:n.27_41dup (ACADVL)
ENST00000582356.5:n.62_76dup (ACADVL)
ENST00000583312.5:c.-64_-50dup (ACADVL) ENSP00000467920.1:n.-64_-50dup
ENST00000584103.5:c.-64_-50dup (ACADVL) ENSP00000465353.1:n.-64_-50dup
XM_006721516.2:c.-64_-50dup (ACADVL) XP_006721579.2:n.-64_-50dup
XM_011523829.1:c.-64_-50dup (ACADVL) XP_011522131.1:n.-64_-50dup
XM_011523830.1:c.-64_-50dup (ACADVL) XP_011522132.1:n.-64_-50dup
XR_934021.1:n.44_58dup (ACADVL)
XR_934022.1:n.44_58dup (ACADVL)
XR_934023.1:n.44_58dup (ACADVL)