Canonical Allele Identifier: CA2245711184

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223544_7223553delinsAAGCTAGGTC , CM000679.2:g.7223544_7223553delinsAAGCTAGGTC	GRCh38
NC_000017.10:g.7126863_7126872delinsAAGCTAGGTC , CM000679.1:g.7126863_7126872delinsAAGCTAGGTC	GRCh37
NC_000017.9:g.7067587_7067596delinsAAGCTAGGTC	NCBI36
NG_007975.1:g.8711_8720delinsAAGCTAGGTC
NG_008391.2:g.1498_1507delinsGACCTAGCTT
NG_033038.1:g.15992_16001delinsGACCTAGCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1183-100_1183-91delinsAAGCTAGGTC MANE Select	ENSP00000349297.5:n.1183-100_1183-91delinsAAGCTAGGTC
ENST00000322910.9:c.*1138-100_*1138-91delinsAAGCTAGGTC	ENSP00000325395.5:n.*1138-100_*1138-91delinsAAGCTAGGTC
ENST00000350303.9:c.1117-100_1117-91delinsAAGCTAGGTC	ENSP00000344152.5:n.1117-100_1117-91delinsAAGCTAGGTC
ENST00000356839.9:c.1183-100_1183-91delinsAAGCTAGGTC	ENSP00000349297.5:n.1183-100_1183-91delinsAAGCTAGGTC
ENST00000542255.6:c.41-100_41-91delinsAAGCTAGGTC
ENST00000543245.6:c.1252-100_1252-91delinsAAGCTAGGTC	ENSP00000438689.2:n.1252-100_1252-91delinsAAGCTAGGTC
ENST00000578579.2:n.254_263delinsAAGCTAGGTC
ENST00000578711.1:n.40_49delinsAAGCTAGGTC
ENST00000578824.5:n.599-100_599-91delinsAAGCTAGGTC
ENST00000579425.5:n.207-100_207-91delinsAAGCTAGGTC
ENST00000579546.1:c.20-100_20-91delinsAAGCTAGGTC
ENST00000583858.5:c.212-100_212-91delinsAAGCTAGGTC
ENST00000585203.6:n.391-100_391-91delinsAAGCTAGGTC
NM_000018.3:c.1183-100_1183-91delinsAAGCTAGGTC	NP_000009.1:n.1183-100_1183-91delinsAAGCTAGGTC
NM_001033859.2:c.1117-100_1117-91delinsAAGCTAGGTC	NP_001029031.1:n.1117-100_1117-91delinsAAGCTAGGTC
NM_001270447.1:c.1252-100_1252-91delinsAAGCTAGGTC	NP_001257376.1:n.1252-100_1252-91delinsAAGCTAGGTC
NM_001270448.1:c.955-100_955-91delinsAAGCTAGGTC	NP_001257377.1:n.955-100_955-91delinsAAGCTAGGTC
XM_006721516.2:c.1183-100_1183-91delinsAAGCTAGGTC	XP_006721579.2:n.1183-100_1183-91delinsAAGCTAGGTC
XM_011523829.1:c.1183-100_1183-91delinsAAGCTAGGTC	XP_011522131.1:n.1183-100_1183-91delinsAAGCTAGGTC
XM_011523830.1:c.1183-100_1183-91delinsAAGCTAGGTC	XP_011522132.1:n.1183-100_1183-91delinsAAGCTAGGTC
XR_934021.1:n.1290-100_1290-91delinsAAGCTAGGTC
XR_934022.1:n.1290-100_1290-91delinsAAGCTAGGTC
XR_934023.1:n.1290-100_1290-91delinsAAGCTAGGTC
XM_006721516.3:c.1183-100_1183-91delinsAAGCTAGGTC	XP_006721579.2:n.1183-100_1183-91delinsAAGCTAGGTC
XM_011523829.2:c.1183-100_1183-91delinsAAGCTAGGTC	XP_011522131.1:n.1183-100_1183-91delinsAAGCTAGGTC
XM_011523830.2:c.1183-100_1183-91delinsAAGCTAGGTC	XP_011522132.1:n.1183-100_1183-91delinsAAGCTAGGTC
XM_024450741.1:c.1183-100_1183-91delinsAAGCTAGGTC	XP_024306509.1:n.1183-100_1183-91delinsAAGCTAGGTC
XR_934021.2:n.1242-100_1242-91delinsAAGCTAGGTC
XR_934022.2:n.1242-100_1242-91delinsAAGCTAGGTC
XR_934023.2:n.1242-100_1242-91delinsAAGCTAGGTC
NM_000018.4:c.1183-100_1183-91delinsAAGCTAGGTC MANE Select	NP_000009.1:n.1183-100_1183-91delinsAAGCTAGGTC
NM_001033859.3:c.1117-100_1117-91delinsAAGCTAGGTC	NP_001029031.1:n.1117-100_1117-91delinsAAGCTAGGTC
NM_001270447.2:c.1252-100_1252-91delinsAAGCTAGGTC	NP_001257376.1:n.1252-100_1252-91delinsAAGCTAGGTC
NM_001270448.2:c.955-100_955-91delinsAAGCTAGGTC	NP_001257377.1:n.955-100_955-91delinsAAGCTAGGTC