Canonical Allele Identifier: CA2635782322
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222377-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222378dup , CM000679.2:g.7222378dup GRCh38
NC_000017.10:g.7125697dup , CM000679.1:g.7125697dup GRCh37
NC_000017.9:g.7066421dup NCBI36
NG_007975.1:g.7545dup
NG_008391.2:g.2673dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+76dup MANE Select ENSP00000349297.5:n.878+76dup
ENST00000322910.9:c.*833+76dup ENSP00000325395.5:n.*833+76dup
ENST00000350303.9:c.812+76dup ENSP00000344152.5:n.812+76dup
ENST00000356839.9:c.878+76dup ENSP00000349297.5:n.878+76dup
ENST00000543245.6:c.947+76dup ENSP00000438689.2:n.947+76dup
ENST00000577191.5:n.1126dup
ENST00000581378.5:c.596+76dup
ENST00000582379.1:n.262+76dup
NM_000018.3:c.878+76dup NP_000009.1:n.878+76dup
NM_001033859.2:c.812+76dup NP_001029031.1:n.812+76dup
NM_001270447.1:c.947+76dup NP_001257376.1:n.947+76dup
NM_001270448.1:c.650+76dup NP_001257377.1:n.650+76dup
XM_006721516.2:c.878+76dup XP_006721579.2:n.878+76dup
XM_011523829.1:c.878+76dup XP_011522131.1:n.878+76dup
XM_011523830.1:c.878+76dup XP_011522132.1:n.878+76dup
XR_934021.1:n.985+76dup
XR_934022.1:n.985+76dup
XR_934023.1:n.985+76dup
XM_006721516.3:c.878+76dup XP_006721579.2:n.878+76dup
XM_011523829.2:c.878+76dup XP_011522131.1:n.878+76dup
XM_011523830.2:c.878+76dup XP_011522132.1:n.878+76dup
XM_024450741.1:c.878+76dup XP_024306509.1:n.878+76dup
XR_934021.2:n.937+76dup
XR_934022.2:n.937+76dup
XR_934023.2:n.937+76dup
NM_000018.4:c.878+76dup MANE Select NP_000009.1:n.878+76dup
NM_001033859.3:c.812+76dup NP_001029031.1:n.812+76dup
NM_001270447.2:c.947+76dup NP_001257376.1:n.947+76dup
NM_001270448.2:c.650+76dup NP_001257377.1:n.650+76dup
Search 100 bp 5'
Search 100 bp 3'