Canonical Allele Identifier: CA2635783184

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223949-TTGTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223952_7223955del , CM000679.2:g.7223952_7223955del	GRCh38
NC_000017.10:g.7127271_7127274del , CM000679.1:g.7127271_7127274del	GRCh37
NC_000017.9:g.7067995_7067998del	NCBI36
NG_007975.1:g.9119_9122del
NG_008391.2:g.1098_1101del
NG_033038.1:g.15592_15595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1333-16_1333-13del MANE Select	ENSP00000349297.5:n.1333-16_1333-13del
ENST00000322910.9:c.*1288-16_*1288-13del	ENSP00000325395.5:n.*1288-16_*1288-13del
ENST00000350303.9:c.1267-16_1267-13del	ENSP00000344152.5:n.1267-16_1267-13del
ENST00000356839.9:c.1333-16_1333-13del	ENSP00000349297.5:n.1333-16_1333-13del
ENST00000542255.6:c.191-16_191-13del
ENST00000543245.6:c.1402-16_1402-13del	ENSP00000438689.2:n.1402-16_1402-13del
ENST00000578711.1:n.448_451del
ENST00000579425.5:n.433_436del
ENST00000579546.1:c.170-16_170-13del
ENST00000579894.5:n.28_31del
ENST00000583074.5:n.52-16_52-13del
ENST00000583850.5:n.108-16_108-13del
ENST00000583858.5:c.362-16_362-13del
ENST00000585203.6:n.524-16_524-13del
NM_000018.3:c.1333-16_1333-13del	NP_000009.1:n.1333-16_1333-13del
NM_001033859.2:c.1267-16_1267-13del	NP_001029031.1:n.1267-16_1267-13del
NM_001270447.1:c.1402-16_1402-13del	NP_001257376.1:n.1402-16_1402-13del
NM_001270448.1:c.1105-16_1105-13del	NP_001257377.1:n.1105-16_1105-13del
XM_006721516.2:c.1333-16_1333-13del	XP_006721579.2:n.1333-16_1333-13del
XM_011523829.1:c.1333-16_1333-13del	XP_011522131.1:n.1333-16_1333-13del
XM_011523830.1:c.1333-16_1333-13del	XP_011522132.1:n.1333-16_1333-13del
XR_934021.1:n.1440-16_1440-13del
XR_934022.1:n.1440-16_1440-13del
XR_934023.1:n.1440-16_1440-13del
XM_006721516.3:c.1333-16_1333-13del	XP_006721579.2:n.1333-16_1333-13del
XM_011523829.2:c.1333-16_1333-13del	XP_011522131.1:n.1333-16_1333-13del
XM_011523830.2:c.1333-16_1333-13del	XP_011522132.1:n.1333-16_1333-13del
XM_024450741.1:c.1333-16_1333-13del	XP_024306509.1:n.1333-16_1333-13del
XR_934021.2:n.1392-16_1392-13del
XR_934022.2:n.1392-16_1392-13del
XR_934023.2:n.1392-16_1392-13del
NM_000018.4:c.1333-16_1333-13del MANE Select	NP_000009.1:n.1333-16_1333-13del
NM_001033859.3:c.1267-16_1267-13del	NP_001029031.1:n.1267-16_1267-13del
NM_001270447.2:c.1402-16_1402-13del	NP_001257376.1:n.1402-16_1402-13del
NM_001270448.2:c.1105-16_1105-13del	NP_001257377.1:n.1105-16_1105-13del