Canonical Allele Identifier: CA2245700245

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221611_7221612delinsTC , CM000679.2:g.7221611_7221612delinsTC	GRCh38
NC_000017.10:g.7124930_7124931delinsTC , CM000679.1:g.7124930_7124931delinsTC	GRCh37
NC_000017.9:g.7065654_7065655delinsTC	NCBI36
NG_007975.1:g.6778_6779delinsTC
NG_008391.2:g.3439_3440delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.551_552delinsTC MANE Select	ENSP00000349297.5:p.Ile184=
ENST00000322910.9:c.*506_*507delinsTC	ENSP00000325395.5:n.*506_*507delinsTC
ENST00000350303.9:c.485_486delinsTC	ENSP00000344152.5:p.Ile162=
ENST00000356839.9:c.551_552delinsTC	ENSP00000349297.5:p.Ile184=
ENST00000543245.6:c.620_621delinsTC	ENSP00000438689.2:p.Ile207=
ENST00000577191.5:n.628_629delinsTC
ENST00000577433.5:n.759_760delinsTC
ENST00000577857.5:n.367_368delinsTC
ENST00000579286.5:n.732_733delinsTC
ENST00000579886.2:c.389_390delinsTC	ENSP00000463246.1:p.Ile130=
ENST00000580365.1:n.282_283delinsTC
ENST00000581378.5:c.269_270delinsTC
ENST00000581562.5:n.525-341_525-340delinsTC
ENST00000582166.1:n.532_533delinsTC
ENST00000583312.5:c.551_552delinsTC	ENSP00000467920.1:p.Ile184=
ENST00000583760.1:n.333_334delinsTC
NM_000018.3:c.551_552delinsTC	NP_000009.1:p.Ile184=
NM_001033859.2:c.485_486delinsTC	NP_001029031.1:p.Ile162=
NM_001270447.1:c.620_621delinsTC	NP_001257376.1:p.Ile207=
NM_001270448.1:c.323_324delinsTC	NP_001257377.1:p.Ile108=
XM_006721516.2:c.551_552delinsTC	XP_006721579.2:p.Ile184=
XM_011523829.1:c.551_552delinsTC	XP_011522131.1:p.Ile184=
XM_011523830.1:c.551_552delinsTC	XP_011522132.1:p.Ile184=
XR_934021.1:n.658_659delinsTC
XR_934022.1:n.658_659delinsTC
XR_934023.1:n.658_659delinsTC
XM_006721516.3:c.551_552delinsTC	XP_006721579.2:p.Ile184=
XM_011523829.2:c.551_552delinsTC	XP_011522131.1:p.Ile184=
XM_011523830.2:c.551_552delinsTC	XP_011522132.1:p.Ile184=
XM_024450741.1:c.551_552delinsTC	XP_024306509.1:p.Ile184=
XR_934021.2:n.610_611delinsTC
XR_934022.2:n.610_611delinsTC
XR_934023.2:n.610_611delinsTC
NM_000018.4:c.551_552delinsTC MANE Select	NP_000009.1:p.Ile184=
NM_001033859.3:c.485_486delinsTC	NP_001029031.1:p.Ile162=
NM_001270447.2:c.620_621delinsTC	NP_001257376.1:p.Ile207=
NM_001270448.2:c.323_324delinsTC	NP_001257377.1:p.Ile108=