Canonical Allele Identifier: CA2635781252

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221616-T-TTCAAAGGCATCCTGCTCTTTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221617_7221639dup , CM000679.2:g.7221617_7221639dup	GRCh38
NC_000017.10:g.7124936_7124958dup , CM000679.1:g.7124936_7124958dup	GRCh37
NC_000017.9:g.7065660_7065682dup	NCBI36
NG_007975.1:g.6784_6806dup
NG_008391.2:g.3412_3434dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.557_579dup MANE Select	ENSP00000349297.5:p.Thr194SerfsTer31
ENST00000322910.9:c.*512_*534dup	ENSP00000325395.5:n.*512_*534dup
ENST00000350303.9:c.491_513dup	ENSP00000344152.5:p.Thr172SerfsTer31
ENST00000356839.9:c.557_579dup	ENSP00000349297.5:p.Thr194SerfsTer31
ENST00000543245.6:c.626_648dup	ENSP00000438689.2:p.Thr217SerfsTer31
ENST00000577191.5:n.634_656dup
ENST00000577433.5:n.765_787dup
ENST00000577857.5:n.373_395dup
ENST00000579286.5:n.738_760dup
ENST00000579886.2:c.395_417dup	ENSP00000463246.1:p.Thr140SerfsTer?
ENST00000580365.1:n.288_310dup
ENST00000581378.5:c.275_297dup
ENST00000581562.5:n.525-335_525-313dup
ENST00000583312.5:c.557_579dup	ENSP00000467920.1:p.Thr194SerfsTer36
ENST00000583760.1:n.339_361dup
NM_000018.3:c.557_579dup	NP_000009.1:p.Thr194SerfsTer31
NM_001033859.2:c.491_513dup	NP_001029031.1:p.Thr172SerfsTer31
NM_001270447.1:c.626_648dup	NP_001257376.1:p.Thr217SerfsTer31
NM_001270448.1:c.329_351dup	NP_001257377.1:p.Thr118SerfsTer31
XM_006721516.2:c.557_579dup	XP_006721579.2:p.Thr194SerfsTer31
XM_011523829.1:c.557_579dup	XP_011522131.1:p.Thr194SerfsTer31
XM_011523830.1:c.557_579dup	XP_011522132.1:p.Thr194SerfsTer31
XR_934021.1:n.664_686dup
XR_934022.1:n.664_686dup
XR_934023.1:n.664_686dup
XM_006721516.3:c.557_579dup	XP_006721579.2:p.Thr194SerfsTer31
XM_011523829.2:c.557_579dup	XP_011522131.1:p.Thr194SerfsTer31
XM_011523830.2:c.557_579dup	XP_011522132.1:p.Thr194SerfsTer31
XM_024450741.1:c.557_579dup	XP_024306509.1:p.Thr194SerfsTer31
XR_934021.2:n.616_638dup
XR_934022.2:n.616_638dup
XR_934023.2:n.616_638dup
NM_000018.4:c.557_579dup MANE Select	NP_000009.1:p.Thr194SerfsTer31
NM_001033859.3:c.491_513dup	NP_001029031.1:p.Thr172SerfsTer31
NM_001270447.2:c.626_648dup	NP_001257376.1:p.Thr217SerfsTer31
NM_001270448.2:c.329_351dup	NP_001257377.1:p.Thr118SerfsTer31