Canonical Allele Identifier: CA2245716704

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225126_7225127delinsAT , CM000679.2:g.7225126_7225127delinsAT	GRCh38
NC_000017.10:g.7128445_7128446delinsAT , CM000679.1:g.7128445_7128446delinsAT	GRCh37
NC_000017.9:g.7069169_7069170delinsAT	NCBI36
NG_007975.1:g.10293_10294delinsAT
NG_033038.1:g.14418_14419delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*29_*30delinsAT MANE Select	ENSP00000349297.5:n.*29_*30delinsAT
ENST00000322910.9:c.*1952_*1953delinsAT	ENSP00000325395.5:n.*1952_*1953delinsAT
ENST00000350303.9:c.*29_*30delinsAT	ENSP00000344152.5:n.*29_*30delinsAT
ENST00000356839.9:c.*29_*30delinsAT	ENSP00000349297.5:n.*29_*30delinsAT
ENST00000542255.6:c.876_877delinsAT
ENST00000543245.6:c.*29_*30delinsAT	ENSP00000438689.2:n.*29_*30delinsAT
ENST00000578033.1:n.422_423delinsAT
ENST00000578319.5:n.578_579delinsAT
ENST00000578711.1:n.1622_1623delinsAT
ENST00000578809.5:n.569_570delinsAT
ENST00000579425.5:n.1113_1114delinsAT
ENST00000583848.5:c.363_364delinsAT	ENSP00000466487.1:n.363_364delinsAT
ENST00000583850.5:n.768_769delinsAT
ENST00000583858.5:c.928_929delinsAT
NM_000018.3:c.*29_*30delinsAT	NP_000009.1:n.*29_*30delinsAT
NM_001033859.2:c.*29_*30delinsAT	NP_001029031.1:n.*29_*30delinsAT
NM_001270447.1:c.*29_*30delinsAT	NP_001257376.1:n.*29_*30delinsAT
NM_001270448.1:c.*29_*30delinsAT	NP_001257377.1:n.*29_*30delinsAT
XM_006721516.2:c.*29_*30delinsAT	XP_006721579.2:n.*29_*30delinsAT
XM_011523829.1:c.*29_*30delinsAT	XP_011522131.1:n.*29_*30delinsAT
XM_011523830.1:c.*29_*30delinsAT	XP_011522132.1:n.*29_*30delinsAT
XR_934021.1:n.2100_2101delinsAT
XR_934022.1:n.2006_2007delinsAT
XR_934023.1:n.2027_2028delinsAT
XM_006721516.3:c.*29_*30delinsAT	XP_006721579.2:n.*29_*30delinsAT
XM_011523829.2:c.*29_*30delinsAT	XP_011522131.1:n.*29_*30delinsAT
XM_011523830.2:c.*29_*30delinsAT	XP_011522132.1:n.*29_*30delinsAT
XM_024450741.1:c.*29_*30delinsAT	XP_024306509.1:n.*29_*30delinsAT
XR_934021.2:n.2052_2053delinsAT
XR_934022.2:n.1958_1959delinsAT
XR_934023.2:n.1979_1980delinsAT
NM_000018.4:c.*29_*30delinsAT MANE Select	NP_000009.1:n.*29_*30delinsAT
NM_001033859.3:c.*29_*30delinsAT	NP_001029031.1:n.*29_*30delinsAT
NM_001270447.2:c.*29_*30delinsAT	NP_001257376.1:n.*29_*30delinsAT
NM_001270448.2:c.*29_*30delinsAT	NP_001257377.1:n.*29_*30delinsAT