Canonical Allele Identifier: CA8338202
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 646976
ClinVar RCV Id: RCV000801366 RCV002225734
dbSNP Id: rs759135941
ExAC: 17:7127870 CAGTA / C
gnomAD v2: 17-7127870-CAGTA-C
gnomAD v3: 17-7224551-CAGTA-C
gnomAD v4: 17-7224551-CAGTA-C
MyVariant Identifiers: chr17:g.7127871_7127874del (hg19) chr17:g.7224553_7224556del (hg38) chr17:g.7224552_7224555del (hg38)
ERepo: CA8338202/MONDO:0008723/021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224555_7224558del , CM000679.2:g.7224555_7224558del GRCh38
NC_000017.10:g.7127874_7127877del , CM000679.1:g.7127874_7127877del GRCh37
NC_000017.9:g.7068598_7068601del NCBI36
NG_007975.1:g.9722_9725del
NG_008391.2:g.496_499del
NG_033038.1:g.14990_14993del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1678+3_1678+6del
ENST00000322910.9:c.*1633+3_*1633+6del
ENST00000350303.9:c.1612+3_1612+6del
ENST00000356839.9:c.1678+3_1678+6del
ENST00000542255.6:c.536+3_536+6del
ENST00000543245.6:c.1747+3_1747+6del
ENST00000578319.5:n.259+3_259+6del
ENST00000578711.1:n.1051_1054del
ENST00000578809.5:n.250+3_250+6del
ENST00000579391.1:n.285_288del
ENST00000579425.5:n.794+3_794+6del
ENST00000579546.1:c.413+3_413+6del
ENST00000582450.1:n.189_192del
ENST00000583074.5:n.299+3_299+6del
ENST00000583848.5:c.64+3_64+6del
ENST00000583850.5:n.449+3_449+6del
ENST00000583858.5:c.609+3_609+6del
ENST00000585203.6:n.869+3_869+6del
NM_000018.3:c.1678+3_1678+6del
NM_001033859.2:c.1612+3_1612+6del
NM_001270447.1:c.1747+3_1747+6del
NM_001270448.1:c.1450+3_1450+6del
XM_006721516.2:c.1678+3_1678+6del
XM_011523829.1:c.1576+3_1576+6del
XM_011523830.1:c.1576+3_1576+6del
XR_934021.1:n.1781+3_1781+6del
XR_934022.1:n.1687+3_1687+6del
XR_934023.1:n.1687+3_1687+6del
XM_006721516.3:c.1678+3_1678+6del
XM_011523829.2:c.1576+3_1576+6del
XM_011523830.2:c.1576+3_1576+6del
XM_024450741.1:c.1666+3_1666+6del
XR_934021.2:n.1733+3_1733+6del
XR_934022.2:n.1639+3_1639+6del
XR_934023.2:n.1639+3_1639+6del
NM_000018.4:c.1678+3_1678+6del
NM_001033859.3:c.1612+3_1612+6del
NM_001270447.2:c.1747+3_1747+6del
NM_001270448.2:c.1450+3_1450+6del
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