Canonical Allele Identifier: CA2635783466

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224085-GGGTGGGGGTAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224093_7224104del , CM000679.2:g.7224093_7224104del	GRCh38
NC_000017.10:g.7127412_7127423del , CM000679.1:g.7127412_7127423del	GRCh37
NC_000017.9:g.7068136_7068147del	NCBI36
NG_007975.1:g.9260_9271del
NG_008391.2:g.954_965del
NG_033038.1:g.15448_15459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+24_1434+35del MANE Select	ENSP00000349297.5:n.1434+24_1434+35del
ENST00000322910.9:c.*1389+24_*1389+35del	ENSP00000325395.5:n.*1389+24_*1389+35del
ENST00000350303.9:c.1368+24_1368+35del	ENSP00000344152.5:n.1368+24_1368+35del
ENST00000356839.9:c.1434+24_1434+35del	ENSP00000349297.5:n.1434+24_1434+35del
ENST00000542255.6:c.292+24_292+35del
ENST00000543245.6:c.1503+24_1503+35del	ENSP00000438689.2:n.1503+24_1503+35del
ENST00000578711.1:n.589_600del
ENST00000579425.5:n.550+24_550+35del
ENST00000579546.1:c.271+24_271+35del
ENST00000579894.5:n.169_180del
ENST00000583074.5:n.153+24_153+35del
ENST00000583850.5:n.209+24_209+35del
ENST00000583858.5:c.463+24_463+35del
ENST00000585203.6:n.625+24_625+35del
NM_000018.3:c.1434+24_1434+35del	NP_000009.1:n.1434+24_1434+35del
NM_001033859.2:c.1368+24_1368+35del	NP_001029031.1:n.1368+24_1368+35del
NM_001270447.1:c.1503+24_1503+35del	NP_001257376.1:n.1503+24_1503+35del
NM_001270448.1:c.1206+24_1206+35del	NP_001257377.1:n.1206+24_1206+35del
XM_006721516.2:c.1434+24_1434+35del	XP_006721579.2:n.1434+24_1434+35del
XM_011523829.1:c.1434+24_1434+35del	XP_011522131.1:n.1434+24_1434+35del
XM_011523830.1:c.1434+24_1434+35del	XP_011522132.1:n.1434+24_1434+35del
XR_934021.1:n.1541+24_1541+35del
XR_934022.1:n.1541+24_1541+35del
XR_934023.1:n.1541+24_1541+35del
XM_006721516.3:c.1434+24_1434+35del	XP_006721579.2:n.1434+24_1434+35del
XM_011523829.2:c.1434+24_1434+35del	XP_011522131.1:n.1434+24_1434+35del
XM_011523830.2:c.1434+24_1434+35del	XP_011522132.1:n.1434+24_1434+35del
XM_024450741.1:c.1434+24_1434+35del	XP_024306509.1:n.1434+24_1434+35del
XR_934021.2:n.1493+24_1493+35del
XR_934022.2:n.1493+24_1493+35del
XR_934023.2:n.1493+24_1493+35del
NM_000018.4:c.1434+24_1434+35del MANE Select	NP_000009.1:n.1434+24_1434+35del
NM_001033859.3:c.1368+24_1368+35del	NP_001029031.1:n.1368+24_1368+35del
NM_001270447.2:c.1503+24_1503+35del	NP_001257376.1:n.1503+24_1503+35del
NM_001270448.2:c.1206+24_1206+35del	NP_001257377.1:n.1206+24_1206+35del