Canonical Allele Identifier: CA624861281

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 558408
• ClinVar RCV Id: RCV000674673
• dbSNP Id: rs1315330884
• gnomAD v2: 17-7126113-ATCC-A
• gnomAD v3: 17-7222794-ATCC-A
• gnomAD v4: 17-7222794-ATCC-A
• MyVariant Identifiers: chr17:g.7126114_7126116del (hg19) ; chr17:g.7222797_7222799del (hg38) ; chr17:g.7222795_7222797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222797_7222799del , CM000679.2:g.7222797_7222799del	GRCh38
NC_000017.10:g.7126116_7126118del , CM000679.1:g.7126116_7126118del	GRCh37
NC_000017.9:g.7066840_7066842del	NCBI36
NG_007975.1:g.7964_7966del
NG_008391.2:g.2254_2256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1009_1011del MANE Select	ENSP00000349297.5:p.Leu337del
ENST00000322910.9:c.*964_*966del	ENSP00000325395.5:n.*964_*966del
ENST00000350303.9:c.943_945del	ENSP00000344152.5:p.Leu315del
ENST00000356839.9:c.1009_1011del	ENSP00000349297.5:p.Leu337del
ENST00000543245.6:c.1078_1080del	ENSP00000438689.2:p.Leu360del
ENST00000578824.5:n.158_160del
ENST00000581378.5:c.727_729del
ENST00000582379.1:n.393_395del
ENST00000583858.5:c.38_40del
NM_000018.3:c.1009_1011del	NP_000009.1:p.Leu337del
NM_001033859.2:c.943_945del	NP_001029031.1:p.Leu315del
NM_001270447.1:c.1078_1080del	NP_001257376.1:p.Leu360del
NM_001270448.1:c.781_783del	NP_001257377.1:p.Leu261del
XM_006721516.2:c.1009_1011del	XP_006721579.2:p.Leu337del
XM_011523829.1:c.1009_1011del	XP_011522131.1:p.Leu337del
XM_011523830.1:c.1009_1011del	XP_011522132.1:p.Leu337del
XR_934021.1:n.1116_1118del
XR_934022.1:n.1116_1118del
XR_934023.1:n.1116_1118del
XM_006721516.3:c.1009_1011del	XP_006721579.2:p.Leu337del
XM_011523829.2:c.1009_1011del	XP_011522131.1:p.Leu337del
XM_011523830.2:c.1009_1011del	XP_011522132.1:p.Leu337del
XM_024450741.1:c.1009_1011del	XP_024306509.1:p.Leu337del
XR_934021.2:n.1068_1070del
XR_934022.2:n.1068_1070del
XR_934023.2:n.1068_1070del
NM_000018.4:c.1009_1011del MANE Select	NP_000009.1:p.Leu337del
NM_001033859.3:c.943_945del	NP_001029031.1:p.Leu315del
NM_001270447.2:c.1078_1080del	NP_001257376.1:p.Leu360del
NM_001270448.2:c.781_783del	NP_001257377.1:p.Leu261del