Canonical Allele Identifier: CA2245697911

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220251_7220252delinsGC , CM000679.2:g.7220251_7220252delinsGC	GRCh38
NC_000017.10:g.7123570_7123571delinsGC , CM000679.1:g.7123570_7123571delinsGC	GRCh37
NC_000017.9:g.7064294_7064295delinsGC	NCBI36
NG_007975.1:g.5418_5419delinsGC
NG_008391.2:g.4799_4800delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.138+54_138+55delinsGC MANE Select	ENSP00000349297.5:n.138+54_138+55delinsGC
ENST00000322910.9:c.*93+54_*93+55delinsGC	ENSP00000325395.5:n.*93+54_*93+55delinsGC
ENST00000350303.9:c.138+54_138+55delinsGC	ENSP00000344152.5:n.138+54_138+55delinsGC
ENST00000356839.9:c.138+54_138+55delinsGC	ENSP00000349297.5:n.138+54_138+55delinsGC
ENST00000543245.6:c.207+54_207+55delinsGC	ENSP00000438689.2:n.207+54_207+55delinsGC
ENST00000577191.5:n.215+54_215+55delinsGC
ENST00000577433.5:n.60_61delinsGC
ENST00000577857.5:n.228+54_228+55delinsGC
ENST00000578269.5:n.299_300delinsGC
ENST00000578421.1:n.272+54_272+55delinsGC
ENST00000579286.5:n.245+54_245+55delinsGC
ENST00000579886.2:c.138+54_138+55delinsGC	ENSP00000463246.1:n.138+54_138+55delinsGC
ENST00000580263.5:n.228+54_228+55delinsGC
ENST00000581562.5:n.185+54_185+55delinsGC
ENST00000582056.5:n.228+54_228+55delinsGC
ENST00000582356.5:n.263+54_263+55delinsGC
ENST00000583312.5:c.138+54_138+55delinsGC	ENSP00000467920.1:n.138+54_138+55delinsGC
ENST00000584103.5:c.138+54_138+55delinsGC	ENSP00000465353.1:n.138+54_138+55delinsGC
NM_000018.3:c.138+54_138+55delinsGC	NP_000009.1:n.138+54_138+55delinsGC
NM_001033859.2:c.138+54_138+55delinsGC	NP_001029031.1:n.138+54_138+55delinsGC
NM_001270447.1:c.207+54_207+55delinsGC	NP_001257376.1:n.207+54_207+55delinsGC
NM_001270448.1:c.-91+54_-91+55delinsGC	NP_001257377.1:n.-91+54_-91+55delinsGC
XM_006721516.2:c.138+54_138+55delinsGC	XP_006721579.2:n.138+54_138+55delinsGC
XM_011523829.1:c.138+54_138+55delinsGC	XP_011522131.1:n.138+54_138+55delinsGC
XM_011523830.1:c.138+54_138+55delinsGC	XP_011522132.1:n.138+54_138+55delinsGC
XR_934021.1:n.245+54_245+55delinsGC
XR_934022.1:n.245+54_245+55delinsGC
XR_934023.1:n.245+54_245+55delinsGC
XM_006721516.3:c.138+54_138+55delinsGC	XP_006721579.2:n.138+54_138+55delinsGC
XM_011523829.2:c.138+54_138+55delinsGC	XP_011522131.1:n.138+54_138+55delinsGC
XM_011523830.2:c.138+54_138+55delinsGC	XP_011522132.1:n.138+54_138+55delinsGC
XM_024450741.1:c.138+54_138+55delinsGC	XP_024306509.1:n.138+54_138+55delinsGC
XR_934021.2:n.197+54_197+55delinsGC
XR_934022.2:n.197+54_197+55delinsGC
XR_934023.2:n.197+54_197+55delinsGC
NM_000018.4:c.138+54_138+55delinsGC MANE Select	NP_000009.1:n.138+54_138+55delinsGC
NM_001033859.3:c.138+54_138+55delinsGC	NP_001029031.1:n.138+54_138+55delinsGC
NM_001270447.2:c.207+54_207+55delinsGC	NP_001257376.1:n.207+54_207+55delinsGC
NM_001270448.2:c.-91+54_-91+55delinsGC	NP_001257377.1:n.-91+54_-91+55delinsGC