Canonical Allele Identifier: CA2635780678

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221199-TCCAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221201_7221205del , CM000679.2:g.7221201_7221205del	GRCh38
NC_000017.10:g.7124520_7124524del , CM000679.1:g.7124520_7124524del	GRCh37
NC_000017.9:g.7065244_7065248del	NCBI36
NG_007975.1:g.6368_6372del
NG_008391.2:g.3847_3851del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.477+143_477+147del MANE Select	ENSP00000349297.5:n.477+143_477+147del
ENST00000322910.9:c.*432+143_*432+147del	ENSP00000325395.5:n.*432+143_*432+147del
ENST00000350303.9:c.411+143_411+147del	ENSP00000344152.5:n.411+143_411+147del
ENST00000356839.9:c.477+143_477+147del	ENSP00000349297.5:n.477+143_477+147del
ENST00000543245.6:c.546+143_546+147del	ENSP00000438689.2:n.546+143_546+147del
ENST00000577191.5:n.554+143_554+147del
ENST00000577433.5:n.685+143_685+147del
ENST00000577857.5:n.294-337_294-333del
ENST00000579286.5:n.658+143_658+147del
ENST00000579886.2:c.315+143_315+147del	ENSP00000463246.1:n.315+143_315+147del
ENST00000580365.1:n.208+143_208+147del
ENST00000581378.5:c.176+143_176+147del
ENST00000581562.5:n.524+143_524+147del
ENST00000582166.1:n.458+143_458+147del
ENST00000583312.5:c.477+143_477+147del	ENSP00000467920.1:n.477+143_477+147del
NM_000018.3:c.477+143_477+147del	NP_000009.1:n.477+143_477+147del
NM_001033859.2:c.411+143_411+147del	NP_001029031.1:n.411+143_411+147del
NM_001270447.1:c.546+143_546+147del	NP_001257376.1:n.546+143_546+147del
NM_001270448.1:c.249+143_249+147del	NP_001257377.1:n.249+143_249+147del
XM_006721516.2:c.477+143_477+147del	XP_006721579.2:n.477+143_477+147del
XM_011523829.1:c.477+143_477+147del	XP_011522131.1:n.477+143_477+147del
XM_011523830.1:c.477+143_477+147del	XP_011522132.1:n.477+143_477+147del
XR_934021.1:n.584+143_584+147del
XR_934022.1:n.584+143_584+147del
XR_934023.1:n.584+143_584+147del
XM_006721516.3:c.477+143_477+147del	XP_006721579.2:n.477+143_477+147del
XM_011523829.2:c.477+143_477+147del	XP_011522131.1:n.477+143_477+147del
XM_011523830.2:c.477+143_477+147del	XP_011522132.1:n.477+143_477+147del
XM_024450741.1:c.477+143_477+147del	XP_024306509.1:n.477+143_477+147del
XR_934021.2:n.536+143_536+147del
XR_934022.2:n.536+143_536+147del
XR_934023.2:n.536+143_536+147del
NM_000018.4:c.477+143_477+147del MANE Select	NP_000009.1:n.477+143_477+147del
NM_001033859.3:c.411+143_411+147del	NP_001029031.1:n.411+143_411+147del
NM_001270447.2:c.546+143_546+147del	NP_001257376.1:n.546+143_546+147del
NM_001270448.2:c.249+143_249+147del	NP_001257377.1:n.249+143_249+147del