Canonical Allele Identifier: CA624860710

Gene: ACADVL

Linked Data

• dbSNP Id: rs1567568015
• gnomAD v2: 17-7127417-GGT-G
• gnomAD v4: 17-7224098-GGT-G
• MyVariant Identifiers: chr17:g.7127418_7127419del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224100_7224101del , CM000679.2:g.7224100_7224101del	GRCh38
NC_000017.10:g.7127419_7127420del , CM000679.1:g.7127419_7127420del	GRCh37
NC_000017.9:g.7068143_7068144del	NCBI36
NG_007975.1:g.9267_9268del
NG_008391.2:g.951_952del
NG_033038.1:g.15445_15446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1434+31_1434+32del MANE Select	ENSP00000349297.5:n.1434+31_1434+32del
ENST00000322910.9:c.*1389+31_*1389+32del	ENSP00000325395.5:n.*1389+31_*1389+32del
ENST00000350303.9:c.1368+31_1368+32del	ENSP00000344152.5:n.1368+31_1368+32del
ENST00000356839.9:c.1434+31_1434+32del	ENSP00000349297.5:n.1434+31_1434+32del
ENST00000542255.6:c.292+31_292+32del
ENST00000543245.6:c.1503+31_1503+32del	ENSP00000438689.2:n.1503+31_1503+32del
ENST00000578711.1:n.596_597del
ENST00000579425.5:n.550+31_550+32del
ENST00000579546.1:c.271+31_271+32del
ENST00000579894.5:n.176_177del
ENST00000583074.5:n.153+31_153+32del
ENST00000583850.5:n.209+31_209+32del
ENST00000583858.5:c.463+31_463+32del
ENST00000585203.6:n.625+31_625+32del
NM_000018.3:c.1434+31_1434+32del	NP_000009.1:n.1434+31_1434+32del
NM_001033859.2:c.1368+31_1368+32del	NP_001029031.1:n.1368+31_1368+32del
NM_001270447.1:c.1503+31_1503+32del	NP_001257376.1:n.1503+31_1503+32del
NM_001270448.1:c.1206+31_1206+32del	NP_001257377.1:n.1206+31_1206+32del
XM_006721516.2:c.1434+31_1434+32del	XP_006721579.2:n.1434+31_1434+32del
XM_011523829.1:c.1434+31_1434+32del	XP_011522131.1:n.1434+31_1434+32del
XM_011523830.1:c.1434+31_1434+32del	XP_011522132.1:n.1434+31_1434+32del
XR_934021.1:n.1541+31_1541+32del
XR_934022.1:n.1541+31_1541+32del
XR_934023.1:n.1541+31_1541+32del
XM_006721516.3:c.1434+31_1434+32del	XP_006721579.2:n.1434+31_1434+32del
XM_011523829.2:c.1434+31_1434+32del	XP_011522131.1:n.1434+31_1434+32del
XM_011523830.2:c.1434+31_1434+32del	XP_011522132.1:n.1434+31_1434+32del
XM_024450741.1:c.1434+31_1434+32del	XP_024306509.1:n.1434+31_1434+32del
XR_934021.2:n.1493+31_1493+32del
XR_934022.2:n.1493+31_1493+32del
XR_934023.2:n.1493+31_1493+32del
NM_000018.4:c.1434+31_1434+32del MANE Select	NP_000009.1:n.1434+31_1434+32del
NM_001033859.3:c.1368+31_1368+32del	NP_001029031.1:n.1368+31_1368+32del
NM_001270447.2:c.1503+31_1503+32del	NP_001257376.1:n.1503+31_1503+32del
NM_001270448.2:c.1206+31_1206+32del	NP_001257377.1:n.1206+31_1206+32del