Canonical Allele Identifier: CA8338100

Gene: ACADVL

Linked Data

• dbSNP Id: rs772790098
• ExAC: 17:7127393 GAC / G
• gnomAD v2: 17-7127393-GAC-G
• gnomAD v4: 17-7224074-GAC-G
• MyVariant Identifiers: chr17:g.7127394_7127395del (hg19) ; chr17:g.7224075_7224076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224076_7224077del , CM000679.2:g.7224076_7224077del	GRCh38
NC_000017.10:g.7127395_7127396del , CM000679.1:g.7127395_7127396del	GRCh37
NC_000017.9:g.7068119_7068120del	NCBI36
NG_007975.1:g.9243_9244del
NG_008391.2:g.975_976del
NG_033038.1:g.15469_15470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+7_1434+8del MANE Select	ENSP00000349297.5:n.1434+7_1434+8del
ENST00000322910.9:c.*1389+7_*1389+8del	ENSP00000325395.5:n.*1389+7_*1389+8del
ENST00000350303.9:c.1368+7_1368+8del	ENSP00000344152.5:n.1368+7_1368+8del
ENST00000356839.9:c.1434+7_1434+8del	ENSP00000349297.5:n.1434+7_1434+8del
ENST00000542255.6:c.292+7_292+8del
ENST00000543245.6:c.1503+7_1503+8del	ENSP00000438689.2:n.1503+7_1503+8del
ENST00000578711.1:n.572_573del
ENST00000579425.5:n.550+7_550+8del
ENST00000579546.1:c.271+7_271+8del
ENST00000579894.5:n.152_153del
ENST00000583074.5:n.153+7_153+8del
ENST00000583850.5:n.209+7_209+8del
ENST00000583858.5:c.463+7_463+8del
ENST00000585203.6:n.625+7_625+8del
NM_000018.3:c.1434+7_1434+8del	NP_000009.1:n.1434+7_1434+8del
NM_001033859.2:c.1368+7_1368+8del	NP_001029031.1:n.1368+7_1368+8del
NM_001270447.1:c.1503+7_1503+8del	NP_001257376.1:n.1503+7_1503+8del
NM_001270448.1:c.1206+7_1206+8del	NP_001257377.1:n.1206+7_1206+8del
XM_006721516.2:c.1434+7_1434+8del	XP_006721579.2:n.1434+7_1434+8del
XM_011523829.1:c.1434+7_1434+8del	XP_011522131.1:n.1434+7_1434+8del
XM_011523830.1:c.1434+7_1434+8del	XP_011522132.1:n.1434+7_1434+8del
XR_934021.1:n.1541+7_1541+8del
XR_934022.1:n.1541+7_1541+8del
XR_934023.1:n.1541+7_1541+8del
XM_006721516.3:c.1434+7_1434+8del	XP_006721579.2:n.1434+7_1434+8del
XM_011523829.2:c.1434+7_1434+8del	XP_011522131.1:n.1434+7_1434+8del
XM_011523830.2:c.1434+7_1434+8del	XP_011522132.1:n.1434+7_1434+8del
XM_024450741.1:c.1434+7_1434+8del	XP_024306509.1:n.1434+7_1434+8del
XR_934021.2:n.1493+7_1493+8del
XR_934022.2:n.1493+7_1493+8del
XR_934023.2:n.1493+7_1493+8del
NM_000018.4:c.1434+7_1434+8del MANE Select	NP_000009.1:n.1434+7_1434+8del
NM_001033859.3:c.1368+7_1368+8del	NP_001029031.1:n.1368+7_1368+8del
NM_001270447.2:c.1503+7_1503+8del	NP_001257376.1:n.1503+7_1503+8del
NM_001270448.2:c.1206+7_1206+8del	NP_001257377.1:n.1206+7_1206+8del