Canonical Allele Identifier: CA2733035888

Gene: ACADVL

Linked Data

• dbSNP Id: rs2142982024

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223149del , CM000679.2:g.7223149del	GRCh38
NC_000017.10:g.7126468del , CM000679.1:g.7126468del	GRCh37
NC_000017.9:g.7067192del	NCBI36
NG_007975.1:g.8316del
NG_008391.2:g.1903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1094del MANE Select	ENSP00000349297.5:p.Asn365IlefsTer14
ENST00000322910.9:c.*1049del	ENSP00000325395.5:n.*1049del
ENST00000350303.9:c.1028del	ENSP00000344152.5:p.Asn343IlefsTer14
ENST00000356839.9:c.1094del	ENSP00000349297.5:p.Asn365IlefsTer14
ENST00000543245.6:c.1163del	ENSP00000438689.2:p.Asn388IlefsTer14
ENST00000578579.2:n.43del
ENST00000578824.5:n.510del
ENST00000579425.5:n.118del
ENST00000582379.1:n.745del
ENST00000583858.5:c.123del
ENST00000585203.6:n.302del
NM_000018.3:c.1094del	NP_000009.1:p.Asn365IlefsTer14
NM_001033859.2:c.1028del	NP_001029031.1:p.Asn343IlefsTer14
NM_001270447.1:c.1163del	NP_001257376.1:p.Asn388IlefsTer14
NM_001270448.1:c.866del	NP_001257377.1:p.Asn289IlefsTer14
XM_006721516.2:c.1094del	XP_006721579.2:p.Asn365IlefsTer14
XM_011523829.1:c.1094del	XP_011522131.1:p.Asn365IlefsTer14
XM_011523830.1:c.1094del	XP_011522132.1:p.Asn365IlefsTer14
XR_934021.1:n.1201del
XR_934022.1:n.1201del
XR_934023.1:n.1201del
XM_006721516.3:c.1094del	XP_006721579.2:p.Asn365IlefsTer14
XM_011523829.2:c.1094del	XP_011522131.1:p.Asn365IlefsTer14
XM_011523830.2:c.1094del	XP_011522132.1:p.Asn365IlefsTer14
XM_024450741.1:c.1094del	XP_024306509.1:p.Asn365IlefsTer14
XR_934021.2:n.1153del
XR_934022.2:n.1153del
XR_934023.2:n.1153del
NM_000018.4:c.1094del MANE Select	NP_000009.1:p.Asn365IlefsTer14
NM_001033859.3:c.1028del	NP_001029031.1:p.Asn343IlefsTer14
NM_001270447.2:c.1163del	NP_001257376.1:p.Asn388IlefsTer14
NM_001270448.2:c.866del	NP_001257377.1:p.Asn289IlefsTer14