Canonical Allele Identifier: CA2635781810
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222104_7222105del , CM000679.2:g.7222104_7222105del GRCh38
NC_000017.10:g.7125423_7125424del , CM000679.1:g.7125423_7125424del GRCh37
NC_000017.9:g.7066147_7066148del NCBI36
NG_007975.1:g.7271_7272del
NG_008391.2:g.2948_2949del

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.752+23_752+24del MANE Select ENSP00000349297.5:n.752+23_752+24del
ENST00000322910.9:c.*707+23_*707+24del ENSP00000325395.5:n.*707+23_*707+24del
ENST00000350303.9:c.686+23_686+24del ENSP00000344152.5:n.686+23_686+24del
ENST00000356839.9:c.752+23_752+24del ENSP00000349297.5:n.752+23_752+24del
ENST00000543245.6:c.821+23_821+24del ENSP00000438689.2:n.821+23_821+24del
ENST00000577191.5:n.852_853del
ENST00000581378.5:c.470+23_470+24del
ENST00000582379.1:n.136+23_136+24del
ENST00000583760.1:n.557_558del
NM_000018.3:c.752+23_752+24del NP_000009.1:n.752+23_752+24del
NM_001033859.2:c.686+23_686+24del NP_001029031.1:n.686+23_686+24del
NM_001270447.1:c.821+23_821+24del NP_001257376.1:n.821+23_821+24del
NM_001270448.1:c.524+23_524+24del NP_001257377.1:n.524+23_524+24del
XM_006721516.2:c.752+23_752+24del XP_006721579.2:n.752+23_752+24del
XM_011523829.1:c.752+23_752+24del XP_011522131.1:n.752+23_752+24del
XM_011523830.1:c.752+23_752+24del XP_011522132.1:n.752+23_752+24del
XR_934021.1:n.859+23_859+24del
XR_934022.1:n.859+23_859+24del
XR_934023.1:n.859+23_859+24del
XM_006721516.3:c.752+23_752+24del XP_006721579.2:n.752+23_752+24del
XM_011523829.2:c.752+23_752+24del XP_011522131.1:n.752+23_752+24del
XM_011523830.2:c.752+23_752+24del XP_011522132.1:n.752+23_752+24del
XM_024450741.1:c.752+23_752+24del XP_024306509.1:n.752+23_752+24del
XR_934021.2:n.811+23_811+24del
XR_934022.2:n.811+23_811+24del
XR_934023.2:n.811+23_811+24del
NM_000018.4:c.752+23_752+24del MANE Select NP_000009.1:n.752+23_752+24del
NM_001033859.3:c.686+23_686+24del NP_001029031.1:n.686+23_686+24del
NM_001270447.2:c.821+23_821+24del NP_001257376.1:n.821+23_821+24del
NM_001270448.2:c.524+23_524+24del NP_001257377.1:n.524+23_524+24del