Canonical Allele Identifier: CA2245714165

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224425_7224437delinsTCAGGGACTGCAG , CM000679.2:g.7224425_7224437delinsTCAGGGACTGCAG	GRCh38
NC_000017.10:g.7127744_7127756delinsTCAGGGACTGCAG , CM000679.1:g.7127744_7127756delinsTCAGGGACTGCAG	GRCh37
NC_000017.9:g.7068468_7068480delinsTCAGGGACTGCAG	NCBI36
NG_007975.1:g.9592_9604delinsTCAGGGACTGCAG
NG_008391.2:g.614_626delinsCTGCAGTCCCTGA
NG_033038.1:g.15108_15120delinsCTGCAGTCCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+32_1606-43delinsTCAGGGACTGCAG MANE Select	ENSP00000349297.5:n.1605+32_1606-43delinsTCAGGGACTGCAG
ENST00000322910.9:c.*1560+32_*1561-43delinsTCAGGGACTGCAG	ENSP00000325395.5:n.*1560+32_*1561-43delinsTCAGGGACTGCAG
ENST00000350303.9:c.1539+32_1540-43delinsTCAGGGACTGCAG	ENSP00000344152.5:n.1539+32_1540-43delinsTCAGGGACTGCAG
ENST00000356839.9:c.1605+32_1606-43delinsTCAGGGACTGCAG	ENSP00000349297.5:n.1605+32_1606-43delinsTCAGGGACTGCAG
ENST00000542255.6:c.463+32_464-43delinsTCAGGGACTGCAG
ENST00000543245.6:c.1674+32_1675-43delinsTCAGGGACTGCAG	ENSP00000438689.2:n.1674+32_1675-43delinsTCAGGGACTGCAG
ENST00000578319.5:n.132_144delinsTCAGGGACTGCAG
ENST00000578711.1:n.921_933delinsTCAGGGACTGCAG
ENST00000578809.5:n.177+32_178-43delinsTCAGGGACTGCAG
ENST00000579391.1:n.213+32_213+44delinsTCAGGGACTGCAG
ENST00000579425.5:n.721+32_722-43delinsTCAGGGACTGCAG
ENST00000579546.1:c.344+32_344+44delinsTCAGGGACTGCAG
ENST00000579894.5:n.392+32_393-43delinsTCAGGGACTGCAG
ENST00000582450.1:n.113+32_114-43delinsTCAGGGACTGCAG
ENST00000583074.5:n.226+32_227-43delinsTCAGGGACTGCAG
ENST00000583850.5:n.380+32_380+44delinsTCAGGGACTGCAG
ENST00000583858.5:c.536+32_537-43delinsTCAGGGACTGCAG
ENST00000585203.6:n.796+32_797-43delinsTCAGGGACTGCAG
NM_000018.3:c.1605+32_1606-43delinsTCAGGGACTGCAG	NP_000009.1:n.1605+32_1606-43delinsTCAGGGACTGCAG
NM_001033859.2:c.1539+32_1540-43delinsTCAGGGACTGCAG	NP_001029031.1:n.1539+32_1540-43delinsTCAGGGACTGCAG
NM_001270447.1:c.1674+32_1675-43delinsTCAGGGACTGCAG	NP_001257376.1:n.1674+32_1675-43delinsTCAGGGACTGCAG
NM_001270448.1:c.1377+32_1378-43delinsTCAGGGACTGCAG	NP_001257377.1:n.1377+32_1378-43delinsTCAGGGACTGCAG
XM_006721516.2:c.1605+32_1606-43delinsTCAGGGACTGCAG	XP_006721579.2:n.1605+32_1606-43delinsTCAGGGACTGCAG
XM_011523829.1:c.1507+32_1507+44delinsTCAGGGACTGCAG	XP_011522131.1:n.1507+32_1507+44delinsTCAGGGACTGCAG
XM_011523830.1:c.1507+32_1507+44delinsTCAGGGACTGCAG	XP_011522132.1:n.1507+32_1507+44delinsTCAGGGACTGCAG
XR_934021.1:n.1712+32_1712+44delinsTCAGGGACTGCAG
XR_934022.1:n.1614+32_1615-43delinsTCAGGGACTGCAG
XR_934023.1:n.1614+32_1615-43delinsTCAGGGACTGCAG
XM_006721516.3:c.1605+32_1606-43delinsTCAGGGACTGCAG	XP_006721579.2:n.1605+32_1606-43delinsTCAGGGACTGCAG
XM_011523829.2:c.1507+32_1507+44delinsTCAGGGACTGCAG	XP_011522131.1:n.1507+32_1507+44delinsTCAGGGACTGCAG
XM_011523830.2:c.1507+32_1507+44delinsTCAGGGACTGCAG	XP_011522132.1:n.1507+32_1507+44delinsTCAGGGACTGCAG
XM_024450741.1:c.1539_1551delinsTCAGGGACTGCAG	XP_024306509.1:p.His513=
XR_934021.2:n.1664+32_1664+44delinsTCAGGGACTGCAG
XR_934022.2:n.1566+32_1567-43delinsTCAGGGACTGCAG
XR_934023.2:n.1566+32_1567-43delinsTCAGGGACTGCAG
NM_000018.4:c.1605+32_1606-43delinsTCAGGGACTGCAG MANE Select	NP_000009.1:n.1605+32_1606-43delinsTCAGGGACTGCAG
NM_001033859.3:c.1539+32_1540-43delinsTCAGGGACTGCAG	NP_001029031.1:n.1539+32_1540-43delinsTCAGGGACTGCAG
NM_001270447.2:c.1674+32_1675-43delinsTCAGGGACTGCAG	NP_001257376.1:n.1674+32_1675-43delinsTCAGGGACTGCAG
NM_001270448.2:c.1377+32_1378-43delinsTCAGGGACTGCAG	NP_001257377.1:n.1377+32_1378-43delinsTCAGGGACTGCAG