Canonical Allele Identifier: CA913013638
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126113_7126116del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222794_7222797del , CM000679.2:g.7222794_7222797del GRCh38
NC_000017.10:g.7126113_7126116del , CM000679.1:g.7126113_7126116del GRCh37
NC_000017.9:g.7066837_7066840del NCBI36
NG_007975.1:g.7961_7964del
NG_008391.2:g.2255_2258del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1006_1009del MANE Select ENSP00000349297.5:p.Ile336SerfsTer16
ENST00000322910.9:c.*961_*964del ENSP00000325395.5:n.*961_*964del
ENST00000350303.9:c.940_943del ENSP00000344152.5:p.Ile314SerfsTer16
ENST00000356839.9:c.1006_1009del ENSP00000349297.5:p.Ile336SerfsTer16
ENST00000543245.6:c.1075_1078del ENSP00000438689.2:p.Ile359SerfsTer16
ENST00000578824.5:n.155_158del
ENST00000581378.5:c.724_727del
ENST00000582379.1:n.390_393del
ENST00000583858.5:c.35_38del
NM_000018.3:c.1006_1009del NP_000009.1:p.Ile336SerfsTer16
NM_001033859.2:c.940_943del NP_001029031.1:p.Ile314SerfsTer16
NM_001270447.1:c.1075_1078del NP_001257376.1:p.Ile359SerfsTer16
NM_001270448.1:c.778_781del NP_001257377.1:p.Ile260SerfsTer16
XM_006721516.2:c.1006_1009del XP_006721579.2:p.Ile336SerfsTer16
XM_011523829.1:c.1006_1009del XP_011522131.1:p.Ile336SerfsTer16
XM_011523830.1:c.1006_1009del XP_011522132.1:p.Ile336SerfsTer16
XR_934021.1:n.1113_1116del
XR_934022.1:n.1113_1116del
XR_934023.1:n.1113_1116del
XM_006721516.3:c.1006_1009del XP_006721579.2:p.Ile336SerfsTer16
XM_011523829.2:c.1006_1009del XP_011522131.1:p.Ile336SerfsTer16
XM_011523830.2:c.1006_1009del XP_011522132.1:p.Ile336SerfsTer16
XM_024450741.1:c.1006_1009del XP_024306509.1:p.Ile336SerfsTer16
XR_934021.2:n.1065_1068del
XR_934022.2:n.1065_1068del
XR_934023.2:n.1065_1068del
NM_000018.4:c.1006_1009del MANE Select NP_000009.1:p.Ile336SerfsTer16
NM_001033859.3:c.940_943del NP_001029031.1:p.Ile314SerfsTer16
NM_001270447.2:c.1075_1078del NP_001257376.1:p.Ile359SerfsTer16
NM_001270448.2:c.778_781del NP_001257377.1:p.Ile260SerfsTer16
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