Canonical Allele Identifier: CA774734051

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 846935
• ClinVar RCV Id: RCV001050363
• gnomAD v3: 17-7224479-G-GGCAGTACGGGCTCTGGA
• gnomAD v4: 17-7224479-G-GGCAGTACGGGCTCTGGA
• MyVariant Identifiers: chr17:g.7127798_7127799insGCAGTACGGGCTCTGGA (hg19) ; chr17:g.7224479_7224480insGCAGTACGGGCTCTGGA (hg38)
• ERepo: CA774734051/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224485_7224501dup , CM000679.2:g.7224485_7224501dup	GRCh38
NC_000017.10:g.7127804_7127820dup , CM000679.1:g.7127804_7127820dup	GRCh37
NC_000017.9:g.7068528_7068544dup	NCBI36
NG_007975.1:g.9652_9668dup
NG_008391.2:g.555_571dup
NG_033038.1:g.15049_15065dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1611_1627dup MANE Select	ENSP00000349297.5:p.Phe543TyrfsTer15
ENST00000322910.9:c.*1566_*1582dup	ENSP00000325395.5:n.*1566_*1582dup
ENST00000350303.9:c.1545_1561dup	ENSP00000344152.5:p.Phe521TyrfsTer15
ENST00000356839.9:c.1611_1627dup	ENSP00000349297.5:p.Phe543TyrfsTer15
ENST00000542255.6:c.469_485dup
ENST00000543245.6:c.1680_1696dup	ENSP00000438689.2:p.Phe566TyrfsTer15
ENST00000578319.5:n.192_208dup
ENST00000578711.1:n.981_997dup
ENST00000578809.5:n.183_199dup
ENST00000579391.1:n.215_231dup
ENST00000579425.5:n.727_743dup
ENST00000579546.1:c.346_362dup
ENST00000579894.5:n.398_414dup
ENST00000582450.1:n.119_135dup
ENST00000583074.5:n.232_248dup
ENST00000583850.5:n.382_398dup
ENST00000583858.5:c.542_558dup
ENST00000585203.6:n.802_818dup
NM_000018.3:c.1611_1627dup	NP_000009.1:p.Phe543TyrfsTer15
NM_001033859.2:c.1545_1561dup	NP_001029031.1:p.Phe521TyrfsTer15
NM_001270447.1:c.1680_1696dup	NP_001257376.1:p.Phe566TyrfsTer15
NM_001270448.1:c.1383_1399dup	NP_001257377.1:p.Phe467TyrfsTer15
XM_006721516.2:c.1611_1627dup	XP_006721579.2:p.Phe543TyrfsTer15
XM_011523829.1:c.1509_1525dup
XM_011523830.1:c.1509_1525dup
XR_934021.1:n.1714_1730dup
XR_934022.1:n.1620_1636dup
XR_934023.1:n.1620_1636dup
XM_006721516.3:c.1611_1627dup	XP_006721579.2:p.Phe543TyrfsTer15
XM_011523829.2:c.1509_1525dup
XM_011523830.2:c.1509_1525dup
XM_024450741.1:c.1599_1615dup	XP_024306509.1:p.Phe539TyrfsTer15
XR_934021.2:n.1666_1682dup
XR_934022.2:n.1572_1588dup
XR_934023.2:n.1572_1588dup
NM_000018.4:c.1611_1627dup MANE Select	NP_000009.1:p.Phe543TyrfsTer15
NM_001033859.3:c.1545_1561dup	NP_001029031.1:p.Phe521TyrfsTer15
NM_001270447.2:c.1680_1696dup	NP_001257376.1:p.Phe566TyrfsTer15
NM_001270448.2:c.1383_1399dup	NP_001257377.1:p.Phe467TyrfsTer15