Canonical Allele Identifier: CA2245700075

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221557_7221578delinsTCGTGGGCATGCATGACCTTGG , CM000679.2:g.7221557_7221578delinsTCGTGGGCATGCATGACCTTGG	GRCh38
NC_000017.10:g.7124876_7124897delinsTCGTGGGCATGCATGACCTTGG , CM000679.1:g.7124876_7124897delinsTCGTGGGCATGCATGACCTTGG	GRCh37
NC_000017.9:g.7065600_7065621delinsTCGTGGGCATGCATGACCTTGG	NCBI36
NG_007975.1:g.6724_6745delinsTCGTGGGCATGCATGACCTTGG
NG_008391.2:g.3473_3494delinsCCAAGGTCATGCATGCCCACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.497_518delinsTCGTGGGCATGCATGACCTTGG MANE Select	ENSP00000349297.5:p.Ile166=
ENST00000322910.9:c.*452_*473delinsTCGTGGGCATGCATGACCTTGG	ENSP00000325395.5:n.*452_*473delinsTCGTGGGCATGCATGACCTTGG
ENST00000350303.9:c.431_452delinsTCGTGGGCATGCATGACCTTGG	ENSP00000344152.5:p.Ile144=
ENST00000356839.9:c.497_518delinsTCGTGGGCATGCATGACCTTGG	ENSP00000349297.5:p.Ile166=
ENST00000543245.6:c.566_587delinsTCGTGGGCATGCATGACCTTGG	ENSP00000438689.2:p.Ile189=
ENST00000577191.5:n.574_595delinsTCGTGGGCATGCATGACCTTGG
ENST00000577433.5:n.705_726delinsTCGTGGGCATGCATGACCTTGG
ENST00000577857.5:n.313_334delinsTCGTGGGCATGCATGACCTTGG
ENST00000579286.5:n.678_699delinsTCGTGGGCATGCATGACCTTGG
ENST00000579886.2:c.335_356delinsTCGTGGGCATGCATGACCTTGG	ENSP00000463246.1:p.Ile112=
ENST00000580365.1:n.228_249delinsTCGTGGGCATGCATGACCTTGG
ENST00000581378.5:c.215_236delinsTCGTGGGCATGCATGACCTTGG
ENST00000581562.5:n.525-395_525-374delinsTCGTGGGCATGCATGACCTTGG
ENST00000582166.1:n.478_499delinsTCGTGGGCATGCATGACCTTGG
ENST00000583312.5:c.497_518delinsTCGTGGGCATGCATGACCTTGG	ENSP00000467920.1:p.Ile166=
ENST00000583760.1:n.279_300delinsTCGTGGGCATGCATGACCTTGG
NM_000018.3:c.497_518delinsTCGTGGGCATGCATGACCTTGG	NP_000009.1:p.Ile166=
NM_001033859.2:c.431_452delinsTCGTGGGCATGCATGACCTTGG	NP_001029031.1:p.Ile144=
NM_001270447.1:c.566_587delinsTCGTGGGCATGCATGACCTTGG	NP_001257376.1:p.Ile189=
NM_001270448.1:c.269_290delinsTCGTGGGCATGCATGACCTTGG	NP_001257377.1:p.Ile90=
XM_006721516.2:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_006721579.2:p.Ile166=
XM_011523829.1:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_011522131.1:p.Ile166=
XM_011523830.1:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_011522132.1:p.Ile166=
XR_934021.1:n.604_625delinsTCGTGGGCATGCATGACCTTGG
XR_934022.1:n.604_625delinsTCGTGGGCATGCATGACCTTGG
XR_934023.1:n.604_625delinsTCGTGGGCATGCATGACCTTGG
XM_006721516.3:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_006721579.2:p.Ile166=
XM_011523829.2:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_011522131.1:p.Ile166=
XM_011523830.2:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_011522132.1:p.Ile166=
XM_024450741.1:c.497_518delinsTCGTGGGCATGCATGACCTTGG	XP_024306509.1:p.Ile166=
XR_934021.2:n.556_577delinsTCGTGGGCATGCATGACCTTGG
XR_934022.2:n.556_577delinsTCGTGGGCATGCATGACCTTGG
XR_934023.2:n.556_577delinsTCGTGGGCATGCATGACCTTGG
NM_000018.4:c.497_518delinsTCGTGGGCATGCATGACCTTGG MANE Select	NP_000009.1:p.Ile166=
NM_001033859.3:c.431_452delinsTCGTGGGCATGCATGACCTTGG	NP_001029031.1:p.Ile144=
NM_001270447.2:c.566_587delinsTCGTGGGCATGCATGACCTTGG	NP_001257376.1:p.Ile189=
NM_001270448.2:c.269_290delinsTCGTGGGCATGCATGACCTTGG	NP_001257377.1:p.Ile90=