Canonical Allele Identifier: CA2635782197
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222275_7222277del , CM000679.2:g.7222275_7222277del GRCh38
NC_000017.10:g.7125594_7125596del , CM000679.1:g.7125594_7125596del GRCh37
NC_000017.9:g.7066318_7066320del NCBI36
NG_007975.1:g.7442_7444del
NG_008391.2:g.2778_2780del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.851_853del MANE Select ENSP00000349297.5:p.Val284del
ENST00000322910.9:c.*806_*808del ENSP00000325395.5:n.*806_*808del
ENST00000350303.9:c.785_787del ENSP00000344152.5:p.Val262del
ENST00000356839.9:c.851_853del ENSP00000349297.5:p.Val284del
ENST00000543245.6:c.920_922del ENSP00000438689.2:p.Val307del
ENST00000577191.5:n.1023_1025del
ENST00000581378.5:c.569_571del
ENST00000582379.1:n.235_237del
NM_000018.3:c.851_853del NP_000009.1:p.Val284del
NM_001033859.2:c.785_787del NP_001029031.1:p.Val262del
NM_001270447.1:c.920_922del NP_001257376.1:p.Val307del
NM_001270448.1:c.623_625del NP_001257377.1:p.Val208del
XM_006721516.2:c.851_853del XP_006721579.2:p.Val284del
XM_011523829.1:c.851_853del XP_011522131.1:p.Val284del
XM_011523830.1:c.851_853del XP_011522132.1:p.Val284del
XR_934021.1:n.958_960del
XR_934022.1:n.958_960del
XR_934023.1:n.958_960del
XM_006721516.3:c.851_853del XP_006721579.2:p.Val284del
XM_011523829.2:c.851_853del XP_011522131.1:p.Val284del
XM_011523830.2:c.851_853del XP_011522132.1:p.Val284del
XM_024450741.1:c.851_853del XP_024306509.1:p.Val284del
XR_934021.2:n.910_912del
XR_934022.2:n.910_912del
XR_934023.2:n.910_912del
NM_000018.4:c.851_853del MANE Select NP_000009.1:p.Val284del
NM_001033859.3:c.785_787del NP_001029031.1:p.Val262del
NM_001270447.2:c.920_922del NP_001257376.1:p.Val307del
NM_001270448.2:c.623_625del NP_001257377.1:p.Val208del