Canonical Allele Identifier: CA354213

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1621
• ClinVar RCV Id: RCV000001688
• dbSNP Id: rs2142981921

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223135_7223239del , CM000679.2:g.7223135_7223239del	GRCh38
NC_000017.10:g.7126454_7126558del , CM000679.1:g.7126454_7126558del	GRCh37
NC_000017.9:g.7067178_7067282del	NCBI36
NG_007975.1:g.8302_8406del
NG_008391.2:g.1816_1920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1080_1182+2del
ENST00000322910.9:c.*1035_*1137+2del
ENST00000350303.9:c.1014_1116+2del
ENST00000356839.9:c.1080_1182+2del
ENST00000543245.6:c.1149_1251+2del
ENST00000578579.2:n.29_131+2del
ENST00000578824.5:n.496_598+2del
ENST00000579425.5:n.104_206+2del
ENST00000583858.5:c.109_211+2del
ENST00000585203.6:n.288_390+2del
NM_000018.3:c.1080_1182+2del
NM_001033859.2:c.1014_1116+2del
NM_001270447.1:c.1149_1251+2del
NM_001270448.1:c.852_954+2del
XM_006721516.2:c.1080_1182+2del
XM_011523829.1:c.1080_1182+2del
XM_011523830.1:c.1080_1182+2del
XR_934021.1:n.1187_1289+2del
XR_934022.1:n.1187_1289+2del
XR_934023.1:n.1187_1289+2del
XM_006721516.3:c.1080_1182+2del
XM_011523829.2:c.1080_1182+2del
XM_011523830.2:c.1080_1182+2del
XM_024450741.1:c.1080_1182+2del
XR_934021.2:n.1139_1241+2del
XR_934022.2:n.1139_1241+2del
XR_934023.2:n.1139_1241+2del
NM_000018.4:c.1080_1182+2del
NM_001033859.3:c.1014_1116+2del
NM_001270447.2:c.1149_1251+2del
NM_001270448.2:c.852_954+2del