Canonical Allele Identifier: CA2697557236

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2767202
• ClinVar RCV Id: RCV003499309

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223947_7223948del , CM000679.2:g.7223947_7223948del	GRCh38
NC_000017.10:g.7127266_7127267del , CM000679.1:g.7127266_7127267del	GRCh37
NC_000017.9:g.7067990_7067991del	NCBI36
NG_007975.1:g.9114_9115del
NG_008391.2:g.1103_1104del
NG_033038.1:g.15597_15598del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-21_1333-20del MANE Select	ENSP00000349297.5:n.1333-21_1333-20del
ENST00000322910.9:c.*1288-21_*1288-20del	ENSP00000325395.5:n.*1288-21_*1288-20del
ENST00000350303.9:c.1267-21_1267-20del	ENSP00000344152.5:n.1267-21_1267-20del
ENST00000356839.9:c.1333-21_1333-20del	ENSP00000349297.5:n.1333-21_1333-20del
ENST00000542255.6:c.191-21_191-20del
ENST00000543245.6:c.1402-21_1402-20del	ENSP00000438689.2:n.1402-21_1402-20del
ENST00000578711.1:n.443_444del
ENST00000579425.5:n.428_429del
ENST00000579546.1:c.170-21_170-20del
ENST00000579894.5:n.23_24del
ENST00000583074.5:n.52-21_52-20del
ENST00000583850.5:n.108-21_108-20del
ENST00000583858.5:c.362-21_362-20del
ENST00000585203.6:n.524-21_524-20del
NM_000018.3:c.1333-21_1333-20del	NP_000009.1:n.1333-21_1333-20del
NM_001033859.2:c.1267-21_1267-20del	NP_001029031.1:n.1267-21_1267-20del
NM_001270447.1:c.1402-21_1402-20del	NP_001257376.1:n.1402-21_1402-20del
NM_001270448.1:c.1105-21_1105-20del	NP_001257377.1:n.1105-21_1105-20del
XM_006721516.2:c.1333-21_1333-20del	XP_006721579.2:n.1333-21_1333-20del
XM_011523829.1:c.1333-21_1333-20del	XP_011522131.1:n.1333-21_1333-20del
XM_011523830.1:c.1333-21_1333-20del	XP_011522132.1:n.1333-21_1333-20del
XR_934021.1:n.1440-21_1440-20del
XR_934022.1:n.1440-21_1440-20del
XR_934023.1:n.1440-21_1440-20del
XM_006721516.3:c.1333-21_1333-20del	XP_006721579.2:n.1333-21_1333-20del
XM_011523829.2:c.1333-21_1333-20del	XP_011522131.1:n.1333-21_1333-20del
XM_011523830.2:c.1333-21_1333-20del	XP_011522132.1:n.1333-21_1333-20del
XM_024450741.1:c.1333-21_1333-20del	XP_024306509.1:n.1333-21_1333-20del
XR_934021.2:n.1392-21_1392-20del
XR_934022.2:n.1392-21_1392-20del
XR_934023.2:n.1392-21_1392-20del
NM_000018.4:c.1333-21_1333-20del MANE Select	NP_000009.1:n.1333-21_1333-20del
NM_001033859.3:c.1267-21_1267-20del	NP_001029031.1:n.1267-21_1267-20del
NM_001270447.2:c.1402-21_1402-20del	NP_001257376.1:n.1402-21_1402-20del
NM_001270448.2:c.1105-21_1105-20del	NP_001257377.1:n.1105-21_1105-20del