Canonical Allele Identifier: CA2245714374

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224485_7224486delinsAC , CM000679.2:g.7224485_7224486delinsAC	GRCh38
NC_000017.10:g.7127804_7127805delinsAC , CM000679.1:g.7127804_7127805delinsAC	GRCh37
NC_000017.9:g.7068528_7068529delinsAC	NCBI36
NG_007975.1:g.9652_9653delinsAC
NG_008391.2:g.565_566delinsGT
NG_033038.1:g.15059_15060delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1611_1612delinsAC MANE Select	ENSP00000349297.5:p.Val537=
ENST00000322910.9:c.*1566_*1567delinsAC	ENSP00000325395.5:n.*1566_*1567delinsAC
ENST00000350303.9:c.1545_1546delinsAC	ENSP00000344152.5:p.Val515=
ENST00000356839.9:c.1611_1612delinsAC	ENSP00000349297.5:p.Val537=
ENST00000542255.6:c.469_470delinsAC
ENST00000543245.6:c.1680_1681delinsAC	ENSP00000438689.2:p.Val560=
ENST00000578319.5:n.192_193delinsAC
ENST00000578711.1:n.981_982delinsAC
ENST00000578809.5:n.183_184delinsAC
ENST00000579391.1:n.215_216delinsAC
ENST00000579425.5:n.727_728delinsAC
ENST00000579546.1:c.346_347delinsAC
ENST00000579894.5:n.398_399delinsAC
ENST00000582450.1:n.119_120delinsAC
ENST00000583074.5:n.232_233delinsAC
ENST00000583850.5:n.382_383delinsAC
ENST00000583858.5:c.542_543delinsAC
ENST00000585203.6:n.802_803delinsAC
NM_000018.3:c.1611_1612delinsAC	NP_000009.1:p.Val537=
NM_001033859.2:c.1545_1546delinsAC	NP_001029031.1:p.Val515=
NM_001270447.1:c.1680_1681delinsAC	NP_001257376.1:p.Val560=
NM_001270448.1:c.1383_1384delinsAC	NP_001257377.1:p.Val461=
XM_006721516.2:c.1611_1612delinsAC	XP_006721579.2:p.Val537=
XM_011523829.1:c.1509_1510delinsAC	XP_011522131.1:p.Val503=
XM_011523830.1:c.1509_1510delinsAC	XP_011522132.1:p.Val503=
XR_934021.1:n.1714_1715delinsAC
XR_934022.1:n.1620_1621delinsAC
XR_934023.1:n.1620_1621delinsAC
XM_006721516.3:c.1611_1612delinsAC	XP_006721579.2:p.Val537=
XM_011523829.2:c.1509_1510delinsAC	XP_011522131.1:p.Val503=
XM_011523830.2:c.1509_1510delinsAC	XP_011522132.1:p.Val503=
XM_024450741.1:c.1599_1600delinsAC	XP_024306509.1:p.Val533=
XR_934021.2:n.1666_1667delinsAC
XR_934022.2:n.1572_1573delinsAC
XR_934023.2:n.1572_1573delinsAC
NM_000018.4:c.1611_1612delinsAC MANE Select	NP_000009.1:p.Val537=
NM_001033859.3:c.1545_1546delinsAC	NP_001029031.1:p.Val515=
NM_001270447.2:c.1680_1681delinsAC	NP_001257376.1:p.Val560=
NM_001270448.2:c.1383_1384delinsAC	NP_001257377.1:p.Val461=