Canonical Allele Identifier: CA2573154565

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1392500
• ClinVar RCV Id: RCV001896255
• dbSNP Id: rs2142982040

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223148_7223149insT , CM000679.2:g.7223148_7223149insT	GRCh38
NC_000017.10:g.7126467_7126468insT , CM000679.1:g.7126467_7126468insT	GRCh37
NC_000017.9:g.7067191_7067192insT	NCBI36
NG_007975.1:g.8315_8316insT
NG_008391.2:g.1902_1903insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1093_1094insT MANE Select	ENSP00000349297.5:p.Asn365IlefsTer30
ENST00000322910.9:c.*1048_*1049insT	ENSP00000325395.5:n.*1048_*1049insT
ENST00000350303.9:c.1027_1028insT	ENSP00000344152.5:p.Asn343IlefsTer30
ENST00000356839.9:c.1093_1094insT	ENSP00000349297.5:p.Asn365IlefsTer30
ENST00000543245.6:c.1162_1163insT	ENSP00000438689.2:p.Asn388IlefsTer30
ENST00000578579.2:n.42_43insT
ENST00000578824.5:n.509_510insT
ENST00000579425.5:n.117_118insT
ENST00000582379.1:n.744_745insT
ENST00000583858.5:c.122_123insT
ENST00000585203.6:n.301_302insT
NM_000018.3:c.1093_1094insT	NP_000009.1:p.Asn365IlefsTer30
NM_001033859.2:c.1027_1028insT	NP_001029031.1:p.Asn343IlefsTer30
NM_001270447.1:c.1162_1163insT	NP_001257376.1:p.Asn388IlefsTer30
NM_001270448.1:c.865_866insT	NP_001257377.1:p.Asn289IlefsTer30
XM_006721516.2:c.1093_1094insT	XP_006721579.2:p.Asn365IlefsTer30
XM_011523829.1:c.1093_1094insT	XP_011522131.1:p.Asn365IlefsTer30
XM_011523830.1:c.1093_1094insT	XP_011522132.1:p.Asn365IlefsTer30
XR_934021.1:n.1200_1201insT
XR_934022.1:n.1200_1201insT
XR_934023.1:n.1200_1201insT
XM_006721516.3:c.1093_1094insT	XP_006721579.2:p.Asn365IlefsTer30
XM_011523829.2:c.1093_1094insT	XP_011522131.1:p.Asn365IlefsTer30
XM_011523830.2:c.1093_1094insT	XP_011522132.1:p.Asn365IlefsTer30
XM_024450741.1:c.1093_1094insT	XP_024306509.1:p.Asn365IlefsTer30
XR_934021.2:n.1152_1153insT
XR_934022.2:n.1152_1153insT
XR_934023.2:n.1152_1153insT
NM_000018.4:c.1093_1094insT MANE Select	NP_000009.1:p.Asn365IlefsTer30
NM_001033859.3:c.1027_1028insT	NP_001029031.1:p.Asn343IlefsTer30
NM_001270447.2:c.1162_1163insT	NP_001257376.1:p.Asn388IlefsTer30
NM_001270448.2:c.865_866insT	NP_001257377.1:p.Asn289IlefsTer30