Canonical Allele Identifier: CA2697557235
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2710648
ClinVar RCV Id: RCV003499000
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223884_7223885insTCC , CM000679.2:g.7223884_7223885insTCC GRCh38
NC_000017.10:g.7127203_7127204insTCC , CM000679.1:g.7127203_7127204insTCC GRCh37
NC_000017.9:g.7067927_7067928insTCC NCBI36
NG_007975.1:g.9051_9052insTCC
NG_008391.2:g.1167_1168insGAG
NG_033038.1:g.15661_15662insGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1332+9_1332+10insTCC MANE Select ENSP00000349297.5:n.1332+9_1332+10insTCC
ENST00000322910.9:c.*1287+9_*1287+10insTCC ENSP00000325395.5:n.*1287+9_*1287+10insTCC
ENST00000350303.9:c.1266+9_1266+10insTCC ENSP00000344152.5:n.1266+9_1266+10insTCC
ENST00000356839.9:c.1332+9_1332+10insTCC ENSP00000349297.5:n.1332+9_1332+10insTCC
ENST00000542255.6:c.190+9_190+10insTCC
ENST00000543245.6:c.1401+9_1401+10insTCC ENSP00000438689.2:n.1401+9_1401+10insTCC
ENST00000578711.1:n.380_381insTCC
ENST00000579425.5:n.365_366insTCC
ENST00000579546.1:c.169+9_169+10insTCC
ENST00000583074.5:n.51+9_51+10insTCC
ENST00000583850.5:n.107+9_107+10insTCC
ENST00000583858.5:c.361+9_361+10insTCC
ENST00000585203.6:n.523+26_523+27insTCC
NM_000018.3:c.1332+9_1332+10insTCC NP_000009.1:n.1332+9_1332+10insTCC
NM_001033859.2:c.1266+9_1266+10insTCC NP_001029031.1:n.1266+9_1266+10insTCC
NM_001270447.1:c.1401+9_1401+10insTCC NP_001257376.1:n.1401+9_1401+10insTCC
NM_001270448.1:c.1104+9_1104+10insTCC NP_001257377.1:n.1104+9_1104+10insTCC
XM_006721516.2:c.1332+9_1332+10insTCC XP_006721579.2:n.1332+9_1332+10insTCC
XM_011523829.1:c.1332+9_1332+10insTCC XP_011522131.1:n.1332+9_1332+10insTCC
XM_011523830.1:c.1332+9_1332+10insTCC XP_011522132.1:n.1332+9_1332+10insTCC
XR_934021.1:n.1439+9_1439+10insTCC
XR_934022.1:n.1439+9_1439+10insTCC
XR_934023.1:n.1439+9_1439+10insTCC
XM_006721516.3:c.1332+9_1332+10insTCC XP_006721579.2:n.1332+9_1332+10insTCC
XM_011523829.2:c.1332+9_1332+10insTCC XP_011522131.1:n.1332+9_1332+10insTCC
XM_011523830.2:c.1332+9_1332+10insTCC XP_011522132.1:n.1332+9_1332+10insTCC
XM_024450741.1:c.1332+9_1332+10insTCC XP_024306509.1:n.1332+9_1332+10insTCC
XR_934021.2:n.1391+9_1391+10insTCC
XR_934022.2:n.1391+9_1391+10insTCC
XR_934023.2:n.1391+9_1391+10insTCC
NM_000018.4:c.1332+9_1332+10insTCC MANE Select NP_000009.1:n.1332+9_1332+10insTCC
NM_001033859.3:c.1266+9_1266+10insTCC NP_001029031.1:n.1266+9_1266+10insTCC
NM_001270447.2:c.1401+9_1401+10insTCC NP_001257376.1:n.1401+9_1401+10insTCC
NM_001270448.2:c.1104+9_1104+10insTCC NP_001257377.1:n.1104+9_1104+10insTCC
Search 100 bp 5'
Search 100 bp 3'