Canonical Allele Identifier: CA2635782251
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223643-G-GC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223643_7223644insC , CM000679.2:g.7223643_7223644insC GRCh38
NC_000017.10:g.7126962_7126963insC , CM000679.1:g.7126962_7126963insC GRCh37
NC_000017.9:g.7067686_7067687insC NCBI36
NG_007975.1:g.8810_8811insC
NG_008391.2:g.1407_1408insG
NG_033038.1:g.15901_15902insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183-1_1183insC MANE Select ENSP00000349297.5:n.1183-1_1183insC
ENST00000322910.9:c.*1138-1_*1138insC ENSP00000325395.5:n.*1138-1_*1138insC
ENST00000350303.9:c.1117-1_1117insC ENSP00000344152.5:n.1117-1_1117insC
ENST00000356839.9:c.1183-1_1183insC ENSP00000349297.5:n.1183-1_1183insC
ENST00000542255.6:c.41-1_41insC
ENST00000543245.6:c.1252-1_1252insC ENSP00000438689.2:n.1252-1_1252insC
ENST00000578579.2:n.353_354insC
ENST00000578711.1:n.139_140insC
ENST00000578824.5:n.599-1_599insC
ENST00000579425.5:n.207-1_207insC
ENST00000579546.1:c.20-1_20insC
ENST00000583858.5:c.212-1_212insC
ENST00000585203.6:n.391-1_391insC
NM_000018.3:c.1183-1_1183insC NP_000009.1:n.1183-1_1183insC
NM_001033859.2:c.1117-1_1117insC NP_001029031.1:n.1117-1_1117insC
NM_001270447.1:c.1252-1_1252insC NP_001257376.1:n.1252-1_1252insC
NM_001270448.1:c.955-1_955insC NP_001257377.1:n.955-1_955insC
XM_006721516.2:c.1183-1_1183insC XP_006721579.2:n.1183-1_1183insC
XM_011523829.1:c.1183-1_1183insC XP_011522131.1:n.1183-1_1183insC
XM_011523830.1:c.1183-1_1183insC XP_011522132.1:n.1183-1_1183insC
XR_934021.1:n.1290-1_1290insC
XR_934022.1:n.1290-1_1290insC
XR_934023.1:n.1290-1_1290insC
XM_006721516.3:c.1183-1_1183insC XP_006721579.2:n.1183-1_1183insC
XM_011523829.2:c.1183-1_1183insC XP_011522131.1:n.1183-1_1183insC
XM_011523830.2:c.1183-1_1183insC XP_011522132.1:n.1183-1_1183insC
XM_024450741.1:c.1183-1_1183insC XP_024306509.1:n.1183-1_1183insC
XR_934021.2:n.1242-1_1242insC
XR_934022.2:n.1242-1_1242insC
XR_934023.2:n.1242-1_1242insC
NM_000018.4:c.1183-1_1183insC MANE Select NP_000009.1:n.1183-1_1183insC
NM_001033859.3:c.1117-1_1117insC NP_001029031.1:n.1117-1_1117insC
NM_001270447.2:c.1252-1_1252insC NP_001257376.1:n.1252-1_1252insC
NM_001270448.2:c.955-1_955insC NP_001257377.1:n.955-1_955insC
Search 100 bp 5'
Search 100 bp 3'