Canonical Allele Identifier: CA774744355
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1417585485
MyVariant Identifiers: chr17:g.7126864_7126872del (hg19) chr17:g.7223545_7223553del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223548_7223556del , CM000679.2:g.7223548_7223556del GRCh38
NC_000017.10:g.7126867_7126875del , CM000679.1:g.7126867_7126875del GRCh37
NC_000017.9:g.7067591_7067599del NCBI36
NG_007975.1:g.8715_8723del
NG_008391.2:g.1498_1506del
NG_033038.1:g.15992_16000del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183-96_1183-88del MANE Select ENSP00000349297.5:n.1183-96_1183-88del
ENST00000322910.9:c.*1138-96_*1138-88del ENSP00000325395.5:n.*1138-96_*1138-88del
ENST00000350303.9:c.1117-96_1117-88del ENSP00000344152.5:n.1117-96_1117-88del
ENST00000356839.9:c.1183-96_1183-88del ENSP00000349297.5:n.1183-96_1183-88del
ENST00000542255.6:c.41-96_41-88del
ENST00000543245.6:c.1252-96_1252-88del ENSP00000438689.2:n.1252-96_1252-88del
ENST00000578579.2:n.258_266del
ENST00000578711.1:n.44_52del
ENST00000578824.5:n.599-96_599-88del
ENST00000579425.5:n.207-96_207-88del
ENST00000579546.1:c.20-96_20-88del
ENST00000583858.5:c.212-96_212-88del
ENST00000585203.6:n.391-96_391-88del
NM_000018.3:c.1183-96_1183-88del NP_000009.1:n.1183-96_1183-88del
NM_001033859.2:c.1117-96_1117-88del NP_001029031.1:n.1117-96_1117-88del
NM_001270447.1:c.1252-96_1252-88del NP_001257376.1:n.1252-96_1252-88del
NM_001270448.1:c.955-96_955-88del NP_001257377.1:n.955-96_955-88del
XM_006721516.2:c.1183-96_1183-88del XP_006721579.2:n.1183-96_1183-88del
XM_011523829.1:c.1183-96_1183-88del XP_011522131.1:n.1183-96_1183-88del
XM_011523830.1:c.1183-96_1183-88del XP_011522132.1:n.1183-96_1183-88del
XR_934021.1:n.1290-96_1290-88del
XR_934022.1:n.1290-96_1290-88del
XR_934023.1:n.1290-96_1290-88del
XM_006721516.3:c.1183-96_1183-88del XP_006721579.2:n.1183-96_1183-88del
XM_011523829.2:c.1183-96_1183-88del XP_011522131.1:n.1183-96_1183-88del
XM_011523830.2:c.1183-96_1183-88del XP_011522132.1:n.1183-96_1183-88del
XM_024450741.1:c.1183-96_1183-88del XP_024306509.1:n.1183-96_1183-88del
XR_934021.2:n.1242-96_1242-88del
XR_934022.2:n.1242-96_1242-88del
XR_934023.2:n.1242-96_1242-88del
NM_000018.4:c.1183-96_1183-88del MANE Select NP_000009.1:n.1183-96_1183-88del
NM_001033859.3:c.1117-96_1117-88del NP_001029031.1:n.1117-96_1117-88del
NM_001270447.2:c.1252-96_1252-88del NP_001257376.1:n.1252-96_1252-88del
NM_001270448.2:c.955-96_955-88del NP_001257377.1:n.955-96_955-88del
Search 100 bp 5'
Search 100 bp 3'