Canonical Allele Identifier: CA2635781964
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222189-AGC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222190_7222191del , CM000679.2:g.7222190_7222191del GRCh38
NC_000017.10:g.7125509_7125510del , CM000679.1:g.7125509_7125510del GRCh37
NC_000017.9:g.7066233_7066234del NCBI36
NG_007975.1:g.7357_7358del
NG_008391.2:g.2860_2861del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.766_767del MANE Select ENSP00000349297.5:p.Ala256ArgfsTer?
ENST00000322910.9:c.*721_*722del ENSP00000325395.5:n.*721_*722del
ENST00000350303.9:c.700_701del ENSP00000344152.5:p.Ala234ArgfsTer?
ENST00000356839.9:c.766_767del ENSP00000349297.5:p.Ala256ArgfsTer?
ENST00000543245.6:c.835_836del ENSP00000438689.2:p.Ala279ArgfsTer?
ENST00000577191.5:n.938_939del
ENST00000581378.5:c.484_485del
ENST00000582379.1:n.150_151del
NM_000018.3:c.766_767del NP_000009.1:p.Ala256ArgfsTer?
NM_001033859.2:c.700_701del NP_001029031.1:p.Ala234ArgfsTer?
NM_001270447.1:c.835_836del NP_001257376.1:p.Ala279ArgfsTer?
NM_001270448.1:c.538_539del NP_001257377.1:p.Ala180ArgfsTer?
XM_006721516.2:c.766_767del XP_006721579.2:p.Ala256ArgfsTer?
XM_011523829.1:c.766_767del XP_011522131.1:p.Ala256ArgfsTer?
XM_011523830.1:c.766_767del XP_011522132.1:p.Ala256ArgfsTer?
XR_934021.1:n.873_874del
XR_934022.1:n.873_874del
XR_934023.1:n.873_874del
XM_006721516.3:c.766_767del XP_006721579.2:p.Ala256ArgfsTer?
XM_011523829.2:c.766_767del XP_011522131.1:p.Ala256ArgfsTer?
XM_011523830.2:c.766_767del XP_011522132.1:p.Ala256ArgfsTer?
XM_024450741.1:c.766_767del XP_024306509.1:p.Ala256ArgfsTer?
XR_934021.2:n.825_826del
XR_934022.2:n.825_826del
XR_934023.2:n.825_826del
NM_000018.4:c.766_767del MANE Select NP_000009.1:p.Ala256ArgfsTer?
NM_001033859.3:c.700_701del NP_001029031.1:p.Ala234ArgfsTer?
NM_001270447.2:c.835_836del NP_001257376.1:p.Ala279ArgfsTer?
NM_001270448.2:c.538_539del NP_001257377.1:p.Ala180ArgfsTer?
Search 100 bp 5'
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