Canonical Allele Identifier: CA2635783099
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222727-TGGA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222729_7222731del , CM000679.2:g.7222729_7222731del GRCh38
NC_000017.10:g.7126048_7126050del , CM000679.1:g.7126048_7126050del GRCh37
NC_000017.9:g.7066772_7066774del NCBI36
NG_007975.1:g.7896_7898del
NG_008391.2:g.2321_2323del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.941_943del MANE Select ENSP00000349297.5:p.Gly314del
ENST00000322910.9:c.*896_*898del ENSP00000325395.5:n.*896_*898del
ENST00000350303.9:c.875_877del ENSP00000344152.5:p.Gly292del
ENST00000356839.9:c.941_943del ENSP00000349297.5:p.Gly314del
ENST00000543245.6:c.1010_1012del ENSP00000438689.2:p.Gly337del
ENST00000578824.5:n.90_92del
ENST00000581378.5:c.659_661del
ENST00000582379.1:n.325_327del
NM_000018.3:c.941_943del NP_000009.1:p.Gly314del
NM_001033859.2:c.875_877del NP_001029031.1:p.Gly292del
NM_001270447.1:c.1010_1012del NP_001257376.1:p.Gly337del
NM_001270448.1:c.713_715del NP_001257377.1:p.Gly238del
XM_006721516.2:c.941_943del XP_006721579.2:p.Gly314del
XM_011523829.1:c.941_943del XP_011522131.1:p.Gly314del
XM_011523830.1:c.941_943del XP_011522132.1:p.Gly314del
XR_934021.1:n.1048_1050del
XR_934022.1:n.1048_1050del
XR_934023.1:n.1048_1050del
XM_006721516.3:c.941_943del XP_006721579.2:p.Gly314del
XM_011523829.2:c.941_943del XP_011522131.1:p.Gly314del
XM_011523830.2:c.941_943del XP_011522132.1:p.Gly314del
XM_024450741.1:c.941_943del XP_024306509.1:p.Gly314del
XR_934021.2:n.1000_1002del
XR_934022.2:n.1000_1002del
XR_934023.2:n.1000_1002del
NM_000018.4:c.941_943del MANE Select NP_000009.1:p.Gly314del
NM_001033859.3:c.875_877del NP_001029031.1:p.Gly292del
NM_001270447.2:c.1010_1012del NP_001257376.1:p.Gly337del
NM_001270448.2:c.713_715del NP_001257377.1:p.Gly238del
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