Canonical Allele Identifier: CA2635786958

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224893-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224897del , CM000679.2:g.7224897del	GRCh38
NC_000017.10:g.7128216del , CM000679.1:g.7128216del	GRCh37
NC_000017.9:g.7068940del	NCBI36
NG_007975.1:g.10064del
NG_008391.2:g.157del
NG_033038.1:g.14651del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1827+13del MANE Select	ENSP00000349297.5:n.1827+13del
ENST00000322910.9:c.*1782+13del	ENSP00000325395.5:n.*1782+13del
ENST00000350303.9:c.1761+13del	ENSP00000344152.5:n.1761+13del
ENST00000356839.9:c.1827+13del	ENSP00000349297.5:n.1827+13del
ENST00000542255.6:c.706+13del
ENST00000543245.6:c.1896+13del	ENSP00000438689.2:n.1896+13del
ENST00000578033.1:n.252+13del
ENST00000578319.5:n.408+13del
ENST00000578711.1:n.1393del
ENST00000578809.5:n.399+13del
ENST00000579425.5:n.943+13del
ENST00000579546.1:c.562+13del
ENST00000583848.5:c.193+13del	ENSP00000466487.1:n.193+13del
ENST00000583850.5:n.598+13del
ENST00000583858.5:c.758+13del
NM_000018.3:c.1827+13del	NP_000009.1:n.1827+13del
NM_001033859.2:c.1761+13del	NP_001029031.1:n.1761+13del
NM_001270447.1:c.1896+13del	NP_001257376.1:n.1896+13del
NM_001270448.1:c.1599+13del	NP_001257377.1:n.1599+13del
XM_006721516.2:c.1848+13del	XP_006721579.2:n.1848+13del
XM_011523829.1:c.1746+13del	XP_011522131.1:n.1746+13del
XM_011523830.1:c.1725+13del	XP_011522132.1:n.1725+13del
XR_934021.1:n.1930+13del
XR_934022.1:n.1836+13del
XR_934023.1:n.1857+13del
XM_006721516.3:c.1848+13del	XP_006721579.2:n.1848+13del
XM_011523829.2:c.1746+13del	XP_011522131.1:n.1746+13del
XM_011523830.2:c.1725+13del	XP_011522132.1:n.1725+13del
XM_024450741.1:c.1815+13del	XP_024306509.1:n.1815+13del
XR_934021.2:n.1882+13del
XR_934022.2:n.1788+13del
XR_934023.2:n.1809+13del
NM_000018.4:c.1827+13del MANE Select	NP_000009.1:n.1827+13del
NM_001033859.3:c.1761+13del	NP_001029031.1:n.1761+13del
NM_001270447.2:c.1896+13del	NP_001257376.1:n.1896+13del
NM_001270448.2:c.1599+13del	NP_001257377.1:n.1599+13del