Canonical Allele Identifier: CA913190951

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 618506
• ClinVar RCV Id: RCV000756957 ; RCV002286576
• dbSNP Id: rs1567566228
• gnomAD v4: 17-7223156-CCA-C
• ERepo: CA913190951/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223157_7223158del , CM000679.2:g.7223157_7223158del	GRCh38
NC_000017.10:g.7126476_7126477del , CM000679.1:g.7126476_7126477del	GRCh37
NC_000017.9:g.7067200_7067201del	NCBI36
NG_007975.1:g.8324_8325del
NG_008391.2:g.1893_1894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1102_1103del MANE Select	ENSP00000349297.5:p.Gln368ValfsTer26
ENST00000322910.9:c.*1057_*1058del	ENSP00000325395.5:n.*1057_*1058del
ENST00000350303.9:c.1036_1037del	ENSP00000344152.5:p.Gln346ValfsTer26
ENST00000356839.9:c.1102_1103del	ENSP00000349297.5:p.Gln368ValfsTer26
ENST00000543245.6:c.1171_1172del	ENSP00000438689.2:p.Gln391ValfsTer26
ENST00000578579.2:n.51_52del
ENST00000578824.5:n.518_519del
ENST00000579425.5:n.126_127del
ENST00000582379.1:n.753_754del
ENST00000583858.5:c.131_132del
ENST00000585203.6:n.310_311del
NM_000018.3:c.1102_1103del	NP_000009.1:p.Gln368ValfsTer26
NM_001033859.2:c.1036_1037del	NP_001029031.1:p.Gln346ValfsTer26
NM_001270447.1:c.1171_1172del	NP_001257376.1:p.Gln391ValfsTer26
NM_001270448.1:c.874_875del	NP_001257377.1:p.Gln292ValfsTer26
XM_006721516.2:c.1102_1103del	XP_006721579.2:p.Gln368ValfsTer26
XM_011523829.1:c.1102_1103del	XP_011522131.1:p.Gln368ValfsTer26
XM_011523830.1:c.1102_1103del	XP_011522132.1:p.Gln368ValfsTer26
XR_934021.1:n.1209_1210del
XR_934022.1:n.1209_1210del
XR_934023.1:n.1209_1210del
XM_006721516.3:c.1102_1103del	XP_006721579.2:p.Gln368ValfsTer26
XM_011523829.2:c.1102_1103del	XP_011522131.1:p.Gln368ValfsTer26
XM_011523830.2:c.1102_1103del	XP_011522132.1:p.Gln368ValfsTer26
XM_024450741.1:c.1102_1103del	XP_024306509.1:p.Gln368ValfsTer26
XR_934021.2:n.1161_1162del
XR_934022.2:n.1161_1162del
XR_934023.2:n.1161_1162del
NM_000018.4:c.1102_1103del MANE Select	NP_000009.1:p.Gln368ValfsTer26
NM_001033859.3:c.1036_1037del	NP_001029031.1:p.Gln346ValfsTer26
NM_001270447.2:c.1171_1172del	NP_001257376.1:p.Gln391ValfsTer26
NM_001270448.2:c.874_875del	NP_001257377.1:p.Gln292ValfsTer26