Canonical Allele Identifier: CA624860756

Gene: ACADVL

Linked Data

• dbSNP Id: rs1233574650
• gnomAD v2: 17-7128445-AT-A
• gnomAD v3: 17-7225126-AT-A
• gnomAD v4: 17-7225126-AT-A
• MyVariant Identifiers: chr17:g.7128446del (hg19) ; chr17:g.7225127del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225127del , CM000679.2:g.7225127del	GRCh38
NC_000017.10:g.7128446del , CM000679.1:g.7128446del	GRCh37
NC_000017.9:g.7069170del	NCBI36
NG_007975.1:g.10294del
NG_033038.1:g.14418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.*30del MANE Select	ENSP00000349297.5:n.*30del
ENST00000322910.9:c.*1953del	ENSP00000325395.5:n.*1953del
ENST00000350303.9:c.*30del	ENSP00000344152.5:n.*30del
ENST00000356839.9:c.*30del	ENSP00000349297.5:n.*30del
ENST00000542255.6:c.877del
ENST00000543245.6:c.*30del	ENSP00000438689.2:n.*30del
ENST00000578033.1:n.423del
ENST00000578319.5:n.579del
ENST00000578711.1:n.1623del
ENST00000578809.5:n.570del
ENST00000579425.5:n.1114del
ENST00000583848.5:c.364del	ENSP00000466487.1:n.364del
ENST00000583850.5:n.769del
ENST00000583858.5:c.929del
NM_000018.3:c.*30del	NP_000009.1:n.*30del
NM_001033859.2:c.*30del	NP_001029031.1:n.*30del
NM_001270447.1:c.*30del	NP_001257376.1:n.*30del
NM_001270448.1:c.*30del	NP_001257377.1:n.*30del
XM_006721516.2:c.*30del	XP_006721579.2:n.*30del
XM_011523829.1:c.*30del	XP_011522131.1:n.*30del
XM_011523830.1:c.*30del	XP_011522132.1:n.*30del
XR_934021.1:n.2101del
XR_934022.1:n.2007del
XR_934023.1:n.2028del
XM_006721516.3:c.*30del	XP_006721579.2:n.*30del
XM_011523829.2:c.*30del	XP_011522131.1:n.*30del
XM_011523830.2:c.*30del	XP_011522132.1:n.*30del
XM_024450741.1:c.*30del	XP_024306509.1:n.*30del
XR_934021.2:n.2053del
XR_934022.2:n.1959del
XR_934023.2:n.1980del
NM_000018.4:c.*30del MANE Select	NP_000009.1:n.*30del
NM_001033859.3:c.*30del	NP_001029031.1:n.*30del
NM_001270447.2:c.*30del	NP_001257376.1:n.*30del
NM_001270448.2:c.*30del	NP_001257377.1:n.*30del