Canonical Allele Identifier: CA179707
Gene: ACADVL HGNC NCBI
DLG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 166637
ClinVar RCV Id: RCV000152731 RCV000335414 RCV001610461
dbSNP Id: rs6145976
ExAC: 17:7123240 T / TGGGCGTGCAGGACGC
gnomAD v2: 17-7123240-T-TGGGCGTGCAGGACGC
gnomAD v3: 17-7219921-T-TGGGCGTGCAGGACGC
gnomAD v4: 17-7219921-T-TGGGCGTGCAGGACGC
COSMIC: COSN15648367 COSN15648368 COSN15648369 COSN15648370 COSN15648371 COSN15648372 COSN15648373 COSN15648374 COSN15648375 COSN15648376 COSN15648377 COSN15648378 COSN15648379 COSN15648380
MyVariant Identifiers: chr17:g.7123241_7123255dup (hg19) chr17:g.7123241_7123255dupGGGCGTGCAGGACGC (hg19) chr17:g.7123255_7123256insGGGCGTGCAGGACGC (hg19) chr17:g.7123240_7123241insGGGCGTGCAGGACGC (hg19) chr17:g.7219922_7219936dupGGGCGTGCAGGACGC (hg38) chr17:g.7219936_7219937insGGGCGTGCAGGACGC (hg38) chr17:g.7219921_7219922insGGGCGTGCAGGACGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219922_7219936dup , CM000679.2:g.7219922_7219936dup GRCh38
NC_000017.10:g.7123241_7123255dup , CM000679.1:g.7123241_7123255dup GRCh37
NC_000017.9:g.7063965_7063979dup NCBI36
NG_007975.1:g.5089_5103dup
NG_008391.2:g.5115_5129dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000322910.9:c.-63_-49dup (ACADVL) ENSP00000325395.5:n.-63_-49dup
ENST00000350303.9:c.-63_-49dup (ACADVL) ENSP00000344152.5:n.-63_-49dup
ENST00000356839.9:c.-63_-49dup (ACADVL) ENSP00000349297.5:n.-63_-49dup
ENST00000543245.6:c.132-200_132-186dup (ACADVL) ENSP00000438689.2:n.132-200_132-186dup
ENST00000577191.5:n.15_29dup (ACADVL)
ENST00000577857.5:n.28_42dup (ACADVL)
ENST00000578269.5:n.45_59dup (ACADVL)
ENST00000579286.5:n.45_59dup (ACADVL)
ENST00000580263.5:n.28_42dup (ACADVL)
ENST00000582056.5:n.28_42dup (ACADVL)
ENST00000582356.5:n.63_77dup (ACADVL)
ENST00000583312.5:c.-63_-49dup (ACADVL) ENSP00000467920.1:n.-63_-49dup
ENST00000584103.5:c.-63_-49dup (ACADVL) ENSP00000465353.1:n.-63_-49dup
NM_000018.3:c.-63_-49dup (ACADVL) NP_000009.1:n.-63_-49dup
NM_001033859.2:c.-63_-49dup (ACADVL) NP_001029031.1:n.-63_-49dup
NM_001270447.1:c.132-200_132-186dup (ACADVL) NP_001257376.1:n.132-200_132-186dup
NM_001270448.1:c.-366_-352dup (ACADVL) NP_001257377.1:n.-366_-352dup
NM_001365.3:c.-1087_-1073dup (DLG4) NP_001356.1:n.-1087_-1073dup
XM_006721516.2:c.-63_-49dup (ACADVL) XP_006721579.2:n.-63_-49dup
XM_011523829.1:c.-63_-49dup (ACADVL) XP_011522131.1:n.-63_-49dup
XM_011523830.1:c.-63_-49dup (ACADVL) XP_011522132.1:n.-63_-49dup
XR_934021.1:n.45_59dup (ACADVL)
XR_934022.1:n.45_59dup (ACADVL)
XR_934023.1:n.45_59dup (ACADVL)
NM_001321074.1:c.-1087_-1073dup (DLG4) NP_001308003.1:n.-1087_-1073dup
NM_001365.4:c.-1087_-1073dup (DLG4) NP_001356.1:n.-1087_-1073dup
NR_135527.1:n.115_129dup (DLG4)
NM_001270447.2:c.132-200_132-186dup (ACADVL) NP_001257376.1:n.132-200_132-186dup
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