Canonical Allele Identifier: CA774743711
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1441283947
MyVariant Identifiers: chr17:g.7126250_7126251insC (hg19) chr17:g.7222931_7222932insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222934dup , CM000679.2:g.7222934dup GRCh38
NC_000017.10:g.7126253dup , CM000679.1:g.7126253dup GRCh37
NC_000017.9:g.7066977dup NCBI36
NG_007975.1:g.8101dup
NG_008391.2:g.2119dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1077+69dup MANE Select ENSP00000349297.5:n.1077+69dup
ENST00000322910.9:c.*1032+69dup ENSP00000325395.5:n.*1032+69dup
ENST00000350303.9:c.1011+69dup ENSP00000344152.5:n.1011+69dup
ENST00000356839.9:c.1077+69dup ENSP00000349297.5:n.1077+69dup
ENST00000543245.6:c.1146+69dup ENSP00000438689.2:n.1146+69dup
ENST00000578824.5:n.295dup
ENST00000582379.1:n.530dup
ENST00000583858.5:c.106+69dup
ENST00000585203.6:n.87dup
NM_000018.3:c.1077+69dup NP_000009.1:n.1077+69dup
NM_001033859.2:c.1011+69dup NP_001029031.1:n.1011+69dup
NM_001270447.1:c.1146+69dup NP_001257376.1:n.1146+69dup
NM_001270448.1:c.849+69dup NP_001257377.1:n.849+69dup
XM_006721516.2:c.1077+69dup XP_006721579.2:n.1077+69dup
XM_011523829.1:c.1077+69dup XP_011522131.1:n.1077+69dup
XM_011523830.1:c.1077+69dup XP_011522132.1:n.1077+69dup
XR_934021.1:n.1184+69dup
XR_934022.1:n.1184+69dup
XR_934023.1:n.1184+69dup
XM_006721516.3:c.1077+69dup XP_006721579.2:n.1077+69dup
XM_011523829.2:c.1077+69dup XP_011522131.1:n.1077+69dup
XM_011523830.2:c.1077+69dup XP_011522132.1:n.1077+69dup
XM_024450741.1:c.1077+69dup XP_024306509.1:n.1077+69dup
XR_934021.2:n.1136+69dup
XR_934022.2:n.1136+69dup
XR_934023.2:n.1136+69dup
NM_000018.4:c.1077+69dup MANE Select NP_000009.1:n.1077+69dup
NM_001033859.3:c.1011+69dup NP_001029031.1:n.1011+69dup
NM_001270447.2:c.1146+69dup NP_001257376.1:n.1146+69dup
NM_001270448.2:c.849+69dup NP_001257377.1:n.849+69dup
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