Canonical Allele Identifier: CA1139532272

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2507418
• ClinVar RCV Id: RCV003239316
• gnomAD v4: 17-7224148-CAAAGG-C
• ERepo: CA1139532272/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224155_7224159del , CM000679.2:g.7224155_7224159del	GRCh38
NC_000017.10:g.7127474_7127478del , CM000679.1:g.7127474_7127478del	GRCh37
NC_000017.9:g.7068198_7068202del	NCBI36
NG_007975.1:g.9322_9326del
NG_008391.2:g.898_902del
NG_033038.1:g.15392_15396del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1444_1448del MANE Select	ENSP00000349297.5:p.Lys482AlafsTer?
ENST00000322910.9:c.*1399_*1403del	ENSP00000325395.5:n.*1399_*1403del
ENST00000350303.9:c.1378_1382del	ENSP00000344152.5:p.Lys460AlafsTer?
ENST00000356839.9:c.1444_1448del	ENSP00000349297.5:p.Lys482AlafsTer?
ENST00000542255.6:c.302_306del
ENST00000543245.6:c.1513_1517del	ENSP00000438689.2:p.Lys505AlafsTer?
ENST00000578711.1:n.651_655del
ENST00000579391.1:n.52_56del
ENST00000579425.5:n.560_564del
ENST00000579546.1:c.271+86_271+90del
ENST00000579894.5:n.231_235del
ENST00000583074.5:n.153+86_153+90del
ENST00000583850.5:n.219_223del
ENST00000583858.5:c.463+86_463+90del
ENST00000585203.6:n.635_639del
NM_000018.3:c.1444_1448del	NP_000009.1:p.Lys482AlafsTer?
NM_001033859.2:c.1378_1382del	NP_001029031.1:p.Lys460AlafsTer?
NM_001270447.1:c.1513_1517del	NP_001257376.1:p.Lys505AlafsTer?
NM_001270448.1:c.1216_1220del	NP_001257377.1:p.Lys406AlafsTer?
XM_006721516.2:c.1444_1448del	XP_006721579.2:p.Lys482AlafsTer?
XM_011523829.1:c.1434+86_1434+90del	XP_011522131.1:n.1434+86_1434+90del
XM_011523830.1:c.1434+86_1434+90del	XP_011522132.1:n.1434+86_1434+90del
XR_934021.1:n.1551_1555del
XR_934022.1:n.1541+86_1541+90del
XR_934023.1:n.1541+86_1541+90del
XM_006721516.3:c.1444_1448del	XP_006721579.2:p.Lys482AlafsTer?
XM_011523829.2:c.1434+86_1434+90del	XP_011522131.1:n.1434+86_1434+90del
XM_011523830.2:c.1434+86_1434+90del	XP_011522132.1:n.1434+86_1434+90del
XM_024450741.1:c.1434+86_1434+90del	XP_024306509.1:n.1434+86_1434+90del
XR_934021.2:n.1503_1507del
XR_934022.2:n.1493+86_1493+90del
XR_934023.2:n.1493+86_1493+90del
NM_000018.4:c.1444_1448del MANE Select	NP_000009.1:p.Lys482AlafsTer?
NM_001033859.3:c.1378_1382del	NP_001029031.1:p.Lys460AlafsTer?
NM_001270447.2:c.1513_1517del	NP_001257376.1:p.Lys505AlafsTer?
NM_001270448.2:c.1216_1220del	NP_001257377.1:p.Lys406AlafsTer?