Canonical Allele Identifier: CA2245714172

Gene: ACADVL

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224431_7224432delinsAC , CM000679.2:g.7224431_7224432delinsAC	GRCh38
NC_000017.10:g.7127750_7127751delinsAC , CM000679.1:g.7127750_7127751delinsAC	GRCh37
NC_000017.9:g.7068474_7068475delinsAC	NCBI36
NG_007975.1:g.9598_9599delinsAC
NG_008391.2:g.619_620delinsGT
NG_033038.1:g.15113_15114delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1605+38_1605+39delinsAC MANE Select	ENSP00000349297.5:n.1605+38_1605+39delinsAC
ENST00000322910.9:c.*1560+38_*1560+39delinsAC	ENSP00000325395.5:n.*1560+38_*1560+39delinsAC
ENST00000350303.9:c.1539+38_1539+39delinsAC	ENSP00000344152.5:n.1539+38_1539+39delinsAC
ENST00000356839.9:c.1605+38_1605+39delinsAC	ENSP00000349297.5:n.1605+38_1605+39delinsAC
ENST00000542255.6:c.463+38_463+39delinsAC
ENST00000543245.6:c.1674+38_1674+39delinsAC	ENSP00000438689.2:n.1674+38_1674+39delinsAC
ENST00000578319.5:n.138_139delinsAC
ENST00000578711.1:n.927_928delinsAC
ENST00000578809.5:n.177+38_177+39delinsAC
ENST00000579391.1:n.213+38_213+39delinsAC
ENST00000579425.5:n.721+38_721+39delinsAC
ENST00000579546.1:c.344+38_344+39delinsAC
ENST00000579894.5:n.392+38_392+39delinsAC
ENST00000582450.1:n.113+38_113+39delinsAC
ENST00000583074.5:n.226+38_226+39delinsAC
ENST00000583850.5:n.380+38_380+39delinsAC
ENST00000583858.5:c.536+38_536+39delinsAC
ENST00000585203.6:n.796+38_796+39delinsAC
NM_000018.3:c.1605+38_1605+39delinsAC	NP_000009.1:n.1605+38_1605+39delinsAC
NM_001033859.2:c.1539+38_1539+39delinsAC	NP_001029031.1:n.1539+38_1539+39delinsAC
NM_001270447.1:c.1674+38_1674+39delinsAC	NP_001257376.1:n.1674+38_1674+39delinsAC
NM_001270448.1:c.1377+38_1377+39delinsAC	NP_001257377.1:n.1377+38_1377+39delinsAC
XM_006721516.2:c.1605+38_1605+39delinsAC	XP_006721579.2:n.1605+38_1605+39delinsAC
XM_011523829.1:c.1507+38_1507+39delinsAC	XP_011522131.1:n.1507+38_1507+39delinsAC
XM_011523830.1:c.1507+38_1507+39delinsAC	XP_011522132.1:n.1507+38_1507+39delinsAC
XR_934021.1:n.1712+38_1712+39delinsAC
XR_934022.1:n.1614+38_1614+39delinsAC
XR_934023.1:n.1614+38_1614+39delinsAC
XM_006721516.3:c.1605+38_1605+39delinsAC	XP_006721579.2:n.1605+38_1605+39delinsAC
XM_011523829.2:c.1507+38_1507+39delinsAC	XP_011522131.1:n.1507+38_1507+39delinsAC
XM_011523830.2:c.1507+38_1507+39delinsAC	XP_011522132.1:n.1507+38_1507+39delinsAC
XM_024450741.1:c.1545_1546delinsAC	XP_024306509.1:p.Gly515=
XR_934021.2:n.1664+38_1664+39delinsAC
XR_934022.2:n.1566+38_1566+39delinsAC
XR_934023.2:n.1566+38_1566+39delinsAC
NM_000018.4:c.1605+38_1605+39delinsAC MANE Select	NP_000009.1:n.1605+38_1605+39delinsAC
NM_001033859.3:c.1539+38_1539+39delinsAC	NP_001029031.1:n.1539+38_1539+39delinsAC
NM_001270447.2:c.1674+38_1674+39delinsAC	NP_001257376.1:n.1674+38_1674+39delinsAC
NM_001270448.2:c.1377+38_1377+39delinsAC	NP_001257377.1:n.1377+38_1377+39delinsAC