Canonical Allele Identifier: CA2576147810
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs746054256
gnomAD v4: 17-7221711-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221717del , CM000679.2:g.7221717del GRCh38
NC_000017.10:g.7125036del , CM000679.1:g.7125036del GRCh37
NC_000017.9:g.7065760del NCBI36
NG_007975.1:g.6884del
NG_008391.2:g.3339del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.622+35del MANE Select ENSP00000349297.5:n.622+35del
ENST00000322910.9:c.*577+35del ENSP00000325395.5:n.*577+35del
ENST00000350303.9:c.556+35del ENSP00000344152.5:n.556+35del
ENST00000356839.9:c.622+35del ENSP00000349297.5:n.622+35del
ENST00000543245.6:c.691+35del ENSP00000438689.2:n.691+35del
ENST00000577191.5:n.699+35del
ENST00000577857.5:n.438+35del
ENST00000579286.5:n.803+35del
ENST00000579886.2:c.460+35del ENSP00000463246.1:n.460+35del
ENST00000580365.1:n.353+35del
ENST00000581378.5:c.340+35del
ENST00000581562.5:n.525-235del
ENST00000583312.5:c.622+35del ENSP00000467920.1:n.622+35del
ENST00000583760.1:n.404+35del
NM_000018.3:c.622+35del NP_000009.1:n.622+35del
NM_001033859.2:c.556+35del NP_001029031.1:n.556+35del
NM_001270447.1:c.691+35del NP_001257376.1:n.691+35del
NM_001270448.1:c.394+35del NP_001257377.1:n.394+35del
XM_006721516.2:c.622+35del XP_006721579.2:n.622+35del
XM_011523829.1:c.622+35del XP_011522131.1:n.622+35del
XM_011523830.1:c.622+35del XP_011522132.1:n.622+35del
XR_934021.1:n.729+35del
XR_934022.1:n.729+35del
XR_934023.1:n.729+35del
XM_006721516.3:c.622+35del XP_006721579.2:n.622+35del
XM_011523829.2:c.622+35del XP_011522131.1:n.622+35del
XM_011523830.2:c.622+35del XP_011522132.1:n.622+35del
XM_024450741.1:c.622+35del XP_024306509.1:n.622+35del
XR_934021.2:n.681+35del
XR_934022.2:n.681+35del
XR_934023.2:n.681+35del
NM_000018.4:c.622+35del MANE Select NP_000009.1:n.622+35del
NM_001033859.3:c.556+35del NP_001029031.1:n.556+35del
NM_001270447.2:c.691+35del NP_001257376.1:n.691+35del
NM_001270448.2:c.394+35del NP_001257377.1:n.394+35del
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