Canonical Allele Identifier: CA2733035619

Gene: ACADVL

Linked Data

• dbSNP Id: rs2142980903

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222867_7222868insAGATCATGCCACTAATCGTACCCAGTTTGGGGA , CM000679.2:g.7222867_7222868insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	GRCh38
NC_000017.10:g.7126186_7126187insAGATCATGCCACTAATCGTACCCAGTTTGGGGA , CM000679.1:g.7126186_7126187insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	GRCh37
NC_000017.9:g.7066910_7066911insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NCBI36
NG_007975.1:g.8034_8035insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
NG_008391.2:g.2183_2184insTCCCCAAACTGGGTACGATTAGTGGCATGATCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA MANE Select	ENSP00000349297.5:n.1077+2_1077+3insAGATC...
ENST00000322910.9:c.*1032+2_*1032+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	ENSP00000325395.5:n.*1032+2_*1032+3insAGA...
ENST00000350303.9:c.1011+2_1011+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	ENSP00000344152.5:n.1011+2_1011+3insAGATC...
ENST00000356839.9:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	ENSP00000349297.5:n.1077+2_1077+3insAGATC...
ENST00000543245.6:c.1146+2_1146+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	ENSP00000438689.2:n.1146+2_1146+3insAGATC...
ENST00000578824.5:n.228_229insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
ENST00000582379.1:n.463_464insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
ENST00000583858.5:c.106+2_106+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
ENST00000585203.6:n.20_21insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
NM_000018.3:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_000009.1:n.1077+2_1077+3insAGATCATGCCA...
NM_001033859.2:c.1011+2_1011+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_001029031.1:n.1011+2_1011+3insAGATCATG...
NM_001270447.1:c.1146+2_1146+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_001257376.1:n.1146+2_1146+3insAGATCATG...
NM_001270448.1:c.849+2_849+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_001257377.1:n.849+2_849+3insAGATCATGCC...
XM_006721516.2:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_006721579.2:n.1077+2_1077+3insAGATCATG...
XM_011523829.1:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_011522131.1:n.1077+2_1077+3insAGATCATG...
XM_011523830.1:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_011522132.1:n.1077+2_1077+3insAGATCATG...
XR_934021.1:n.1184+2_1184+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
XR_934022.1:n.1184+2_1184+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
XR_934023.1:n.1184+2_1184+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
XM_006721516.3:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_006721579.2:n.1077+2_1077+3insAGATCATG...
XM_011523829.2:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_011522131.1:n.1077+2_1077+3insAGATCATG...
XM_011523830.2:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_011522132.1:n.1077+2_1077+3insAGATCATG...
XM_024450741.1:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	XP_024306509.1:n.1077+2_1077+3insAGATCATG...
XR_934021.2:n.1136+2_1136+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
XR_934022.2:n.1136+2_1136+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
XR_934023.2:n.1136+2_1136+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA
NM_000018.4:c.1077+2_1077+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA MANE Select	NP_000009.1:n.1077+2_1077+3insAGATCATGCCA...
NM_001033859.3:c.1011+2_1011+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_001029031.1:n.1011+2_1011+3insAGATCATG...
NM_001270447.2:c.1146+2_1146+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_001257376.1:n.1146+2_1146+3insAGATCATG...
NM_001270448.2:c.849+2_849+3insAGATCATGCCACTAATCGTACCCAGTTTGGGGA	NP_001257377.1:n.849+2_849+3insAGATCATGCC...