Canonical Allele Identifier: CA2635780625

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221173-G-GAT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221173_7221174insAT , CM000679.2:g.7221173_7221174insAT	GRCh38
NC_000017.10:g.7124492_7124493insAT , CM000679.1:g.7124492_7124493insAT	GRCh37
NC_000017.9:g.7065216_7065217insAT	NCBI36
NG_007975.1:g.6340_6341insAT
NG_008391.2:g.3877_3878insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+115_477+116insAT MANE Select	ENSP00000349297.5:n.477+115_477+116insAT
ENST00000322910.9:c.*432+115_*432+116insAT	ENSP00000325395.5:n.*432+115_*432+116insAT
ENST00000350303.9:c.411+115_411+116insAT	ENSP00000344152.5:n.411+115_411+116insAT
ENST00000356839.9:c.477+115_477+116insAT	ENSP00000349297.5:n.477+115_477+116insAT
ENST00000543245.6:c.546+115_546+116insAT	ENSP00000438689.2:n.546+115_546+116insAT
ENST00000577191.5:n.554+115_554+116insAT
ENST00000577433.5:n.685+115_685+116insAT
ENST00000577857.5:n.293+343_293+344insAT
ENST00000579286.5:n.658+115_658+116insAT
ENST00000579886.2:c.315+115_315+116insAT	ENSP00000463246.1:n.315+115_315+116insAT
ENST00000580365.1:n.208+115_208+116insAT
ENST00000581378.5:c.176+115_176+116insAT
ENST00000581562.5:n.524+115_524+116insAT
ENST00000582166.1:n.458+115_458+116insAT
ENST00000583312.5:c.477+115_477+116insAT	ENSP00000467920.1:n.477+115_477+116insAT
NM_000018.3:c.477+115_477+116insAT	NP_000009.1:n.477+115_477+116insAT
NM_001033859.2:c.411+115_411+116insAT	NP_001029031.1:n.411+115_411+116insAT
NM_001270447.1:c.546+115_546+116insAT	NP_001257376.1:n.546+115_546+116insAT
NM_001270448.1:c.249+115_249+116insAT	NP_001257377.1:n.249+115_249+116insAT
XM_006721516.2:c.477+115_477+116insAT	XP_006721579.2:n.477+115_477+116insAT
XM_011523829.1:c.477+115_477+116insAT	XP_011522131.1:n.477+115_477+116insAT
XM_011523830.1:c.477+115_477+116insAT	XP_011522132.1:n.477+115_477+116insAT
XR_934021.1:n.584+115_584+116insAT
XR_934022.1:n.584+115_584+116insAT
XR_934023.1:n.584+115_584+116insAT
XM_006721516.3:c.477+115_477+116insAT	XP_006721579.2:n.477+115_477+116insAT
XM_011523829.2:c.477+115_477+116insAT	XP_011522131.1:n.477+115_477+116insAT
XM_011523830.2:c.477+115_477+116insAT	XP_011522132.1:n.477+115_477+116insAT
XM_024450741.1:c.477+115_477+116insAT	XP_024306509.1:n.477+115_477+116insAT
XR_934021.2:n.536+115_536+116insAT
XR_934022.2:n.536+115_536+116insAT
XR_934023.2:n.536+115_536+116insAT
NM_000018.4:c.477+115_477+116insAT MANE Select	NP_000009.1:n.477+115_477+116insAT
NM_001033859.3:c.411+115_411+116insAT	NP_001029031.1:n.411+115_411+116insAT
NM_001270447.2:c.546+115_546+116insAT	NP_001257376.1:n.546+115_546+116insAT
NM_001270448.2:c.249+115_249+116insAT	NP_001257377.1:n.249+115_249+116insAT