Canonical Allele Identifier: CA2517251251

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224658_7224659insTTTTTT , CM000679.2:g.7224658_7224659insTTTTTT	GRCh38
NC_000017.10:g.7127977_7127978insTTTTTT , CM000679.1:g.7127977_7127978insTTTTTT	GRCh37
NC_000017.9:g.7068701_7068702insTTTTTT	NCBI36
NG_007975.1:g.9825_9826insTTTTTT
NG_008391.2:g.392_393insAAAAAA
NG_033038.1:g.14886_14887insAAAAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1695_1696insTTTTTT MANE Select	ENSP00000349297.5:p.Leu565_Gln566insPhePh...
ENST00000322910.9:c.*1650_*1651insTTTTTT	ENSP00000325395.5:n.*1650_*1651insTTTTTT
ENST00000350303.9:c.1629_1630insTTTTTT	ENSP00000344152.5:p.Leu543_Gln544insPhePh...
ENST00000356839.9:c.1695_1696insTTTTTT	ENSP00000349297.5:p.Leu565_Gln566insPhePh...
ENST00000542255.6:c.537-57_537-56insTTTTTT
ENST00000543245.6:c.1764_1765insTTTTTT	ENSP00000438689.2:p.Leu588_Gln589insPhePh...
ENST00000578033.1:n.26_27insTTTTTT
ENST00000578319.5:n.276_277insTTTTTT
ENST00000578711.1:n.1154_1155insTTTTTT
ENST00000578809.5:n.267_268insTTTTTT
ENST00000579425.5:n.811_812insTTTTTT
ENST00000579546.1:c.430_431insTTTTTT
ENST00000582450.1:n.292_293insTTTTTT
ENST00000583074.5:n.300-57_300-56insTTTTTT
ENST00000583848.5:c.65-4_65-3insTTTTTT	ENSP00000466487.1:n.65-4_65-3insTTTTTT
ENST00000583850.5:n.466_467insTTTTTT
ENST00000583858.5:c.626_627insTTTTTT
ENST00000585203.6:n.886_887insTTTTTT
NM_000018.3:c.1695_1696insTTTTTT	NP_000009.1:p.Leu565_Gln566insPhePhe
NM_001033859.2:c.1629_1630insTTTTTT	NP_001029031.1:p.Leu543_Gln544insPhePhe
NM_001270447.1:c.1764_1765insTTTTTT	NP_001257376.1:p.Leu588_Gln589insPhePhe
NM_001270448.1:c.1467_1468insTTTTTT	NP_001257377.1:p.Leu489_Gln490insPhePhe
XM_006721516.2:c.1679-57_1679-56insTTTTTT	XP_006721579.2:n.1679-57_1679-56insTTTTTT...
XM_011523829.1:c.1577-57_1577-56insTTTTTT	XP_011522131.1:n.1577-57_1577-56insTTTTTT...
XM_011523830.1:c.1593_1594insTTTTTT	XP_011522132.1:p.Leu531_Gln532insPhePhe
XR_934021.1:n.1798_1799insTTTTTT
XR_934022.1:n.1704_1705insTTTTTT
XR_934023.1:n.1688-57_1688-56insTTTTTT
XM_006721516.3:c.1679-57_1679-56insTTTTTT	XP_006721579.2:n.1679-57_1679-56insTTTTTT...
XM_011523829.2:c.1577-57_1577-56insTTTTTT	XP_011522131.1:n.1577-57_1577-56insTTTTTT...
XM_011523830.2:c.1593_1594insTTTTTT	XP_011522132.1:p.Leu531_Gln532insPhePhe
XM_024450741.1:c.1683_1684insTTTTTT	XP_024306509.1:p.Leu561_Gln562insPhePhe
XR_934021.2:n.1750_1751insTTTTTT
XR_934022.2:n.1656_1657insTTTTTT
XR_934023.2:n.1640-57_1640-56insTTTTTT
NM_000018.4:c.1695_1696insTTTTTT MANE Select	NP_000009.1:p.Leu565_Gln566insPhePhe
NM_001033859.3:c.1629_1630insTTTTTT	NP_001029031.1:p.Leu543_Gln544insPhePhe
NM_001270447.2:c.1764_1765insTTTTTT	NP_001257376.1:p.Leu588_Gln589insPhePhe
NM_001270448.2:c.1467_1468insTTTTTT	NP_001257377.1:p.Leu489_Gln490insPhePhe