Canonical Allele Identifier: CA658798683

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 541714
• ClinVar RCV Id: RCV000652031
• dbSNP Id: rs1329022268
• gnomAD v3: 17-7220154-GGCCCGGCCCT-G
• gnomAD v4: 17-7220154-GGCCCGGCCCT-G
• MyVariant Identifiers: chr17:g.7123481_7123490del (hg19) ; chr17:g.7123474_7123483del (hg19) ; chr17:g.7220162_7220171del (hg38) ; chr17:g.7220155_7220164del (hg38)
• ERepo: CA658798683/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220162_7220171del , CM000679.2:g.7220162_7220171del	GRCh38
NC_000017.10:g.7123481_7123490del , CM000679.1:g.7123481_7123490del	GRCh37
NC_000017.9:g.7064205_7064214del	NCBI36
NG_007975.1:g.5329_5338del
NG_008391.2:g.4887_4896del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.103_112del MANE Select	ENSP00000349297.5:p.Pro35GlyfsTer23
ENST00000322910.9:c.*58_*67del	ENSP00000325395.5:n.*58_*67del
ENST00000350303.9:c.103_112del	ENSP00000344152.5:p.Pro35GlyfsTer?
ENST00000356839.9:c.103_112del	ENSP00000349297.5:p.Pro35GlyfsTer23
ENST00000543245.6:c.172_181del	ENSP00000438689.2:p.Pro58GlyfsTer23
ENST00000577191.5:n.180_189del
ENST00000577857.5:n.193_202del
ENST00000578269.5:n.210_219del
ENST00000578421.1:n.237_246del
ENST00000579286.5:n.210_219del
ENST00000579886.2:c.103_112del	ENSP00000463246.1:p.Pro35GlyfsTer23
ENST00000580263.5:n.193_202del
ENST00000581562.5:n.150_159del
ENST00000582056.5:n.193_202del
ENST00000582356.5:n.228_237del
ENST00000583312.5:c.103_112del	ENSP00000467920.1:p.Pro35GlyfsTer23
ENST00000584103.5:c.103_112del	ENSP00000465353.1:p.Pro35GlyfsTer23
NM_000018.3:c.103_112del	NP_000009.1:p.Pro35GlyfsTer23
NM_001033859.2:c.103_112del	NP_001029031.1:p.Pro35GlyfsTer?
NM_001270447.1:c.172_181del	NP_001257376.1:p.Pro58GlyfsTer23
NM_001270448.1:c.-126_-117del	NP_001257377.1:n.-126_-117del
XM_006721516.2:c.103_112del	XP_006721579.2:p.Pro35GlyfsTer23
XM_011523829.1:c.103_112del	XP_011522131.1:p.Pro35GlyfsTer23
XM_011523830.1:c.103_112del	XP_011522132.1:p.Pro35GlyfsTer23
XR_934021.1:n.210_219del
XR_934022.1:n.210_219del
XR_934023.1:n.210_219del
XM_006721516.3:c.103_112del	XP_006721579.2:p.Pro35GlyfsTer23
XM_011523829.2:c.103_112del	XP_011522131.1:p.Pro35GlyfsTer23
XM_011523830.2:c.103_112del	XP_011522132.1:p.Pro35GlyfsTer23
XM_024450741.1:c.103_112del	XP_024306509.1:p.Pro35GlyfsTer23
XR_934021.2:n.162_171del
XR_934022.2:n.162_171del
XR_934023.2:n.162_171del
NM_000018.4:c.103_112del MANE Select	NP_000009.1:p.Pro35GlyfsTer23
NM_001033859.3:c.103_112del	NP_001029031.1:p.Pro35GlyfsTer?
NM_001270447.2:c.172_181del	NP_001257376.1:p.Pro58GlyfsTer23
NM_001270448.2:c.-126_-117del	NP_001257377.1:n.-126_-117del