Canonical Allele Identifier: CA2530197321

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224668_7224669del , CM000679.2:g.7224668_7224669del	GRCh38
NC_000017.10:g.7127987_7127988del , CM000679.1:g.7127987_7127988del	GRCh37
NC_000017.9:g.7068711_7068712del	NCBI36
NG_007975.1:g.9835_9836del
NG_008391.2:g.382_383del
NG_033038.1:g.14876_14877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1705_1706del MANE Select	ENSP00000349297.5:p.Ala569ArgfsTer22
ENST00000322910.9:c.*1660_*1661del	ENSP00000325395.5:n.*1660_*1661del
ENST00000350303.9:c.1639_1640del	ENSP00000344152.5:p.Ala547ArgfsTer22
ENST00000356839.9:c.1705_1706del	ENSP00000349297.5:p.Ala569ArgfsTer22
ENST00000542255.6:c.537-47_537-46del
ENST00000543245.6:c.1774_1775del	ENSP00000438689.2:p.Ala592ArgfsTer22
ENST00000578033.1:n.36_37del
ENST00000578319.5:n.286_287del
ENST00000578711.1:n.1164_1165del
ENST00000578809.5:n.277_278del
ENST00000579425.5:n.821_822del
ENST00000579546.1:c.440_441del
ENST00000583074.5:n.300-47_300-46del
ENST00000583848.5:c.71_72del	ENSP00000466487.1:p.Gly24GlufsTer21
ENST00000583850.5:n.476_477del
ENST00000583858.5:c.636_637del
ENST00000585203.6:n.896_897del
NM_000018.3:c.1705_1706del	NP_000009.1:p.Ala569ArgfsTer22
NM_001033859.2:c.1639_1640del	NP_001029031.1:p.Ala547ArgfsTer22
NM_001270447.1:c.1774_1775del	NP_001257376.1:p.Ala592ArgfsTer22
NM_001270448.1:c.1477_1478del	NP_001257377.1:p.Ala493ArgfsTer22
XM_006721516.2:c.1679-47_1679-46del	XP_006721579.2:n.1679-47_1679-46del
XM_011523829.1:c.1577-47_1577-46del	XP_011522131.1:n.1577-47_1577-46del
XM_011523830.1:c.1603_1604del	XP_011522132.1:p.Ala535ArgfsTer22
XR_934021.1:n.1808_1809del
XR_934022.1:n.1714_1715del
XR_934023.1:n.1688-47_1688-46del
XM_006721516.3:c.1679-47_1679-46del	XP_006721579.2:n.1679-47_1679-46del
XM_011523829.2:c.1577-47_1577-46del	XP_011522131.1:n.1577-47_1577-46del
XM_011523830.2:c.1603_1604del	XP_011522132.1:p.Ala535ArgfsTer22
XM_024450741.1:c.1693_1694del	XP_024306509.1:p.Ala565ArgfsTer22
XR_934021.2:n.1760_1761del
XR_934022.2:n.1666_1667del
XR_934023.2:n.1640-47_1640-46del
NM_000018.4:c.1705_1706del MANE Select	NP_000009.1:p.Ala569ArgfsTer22
NM_001033859.3:c.1639_1640del	NP_001029031.1:p.Ala547ArgfsTer22
NM_001270447.2:c.1774_1775del	NP_001257376.1:p.Ala592ArgfsTer22
NM_001270448.2:c.1477_1478del	NP_001257377.1:p.Ala493ArgfsTer22