Canonical Allele Identifier: CA2635784421

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2742577
• ClinVar RCV Id: RCV003497611
• gnomAD v4: 17-7224474-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224475_7224476del , CM000679.2:g.7224475_7224476del	GRCh38
NC_000017.10:g.7127794_7127795del , CM000679.1:g.7127794_7127795del	GRCh37
NC_000017.9:g.7068518_7068519del	NCBI36
NG_007975.1:g.9642_9643del
NG_008391.2:g.575_576del
NG_033038.1:g.15069_15070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1606-5_1606-4del MANE Select	ENSP00000349297.5:n.1606-5_1606-4del
ENST00000322910.9:c.*1561-5_*1561-4del	ENSP00000325395.5:n.*1561-5_*1561-4del
ENST00000350303.9:c.1540-5_1540-4del	ENSP00000344152.5:n.1540-5_1540-4del
ENST00000356839.9:c.1606-5_1606-4del	ENSP00000349297.5:n.1606-5_1606-4del
ENST00000542255.6:c.464-5_464-4del
ENST00000543245.6:c.1675-5_1675-4del	ENSP00000438689.2:n.1675-5_1675-4del
ENST00000578319.5:n.182_183del
ENST00000578711.1:n.971_972del
ENST00000578809.5:n.178-5_178-4del
ENST00000579391.1:n.214-9_214-8del
ENST00000579425.5:n.722-5_722-4del
ENST00000579546.1:c.345-9_345-8del
ENST00000579894.5:n.393-5_393-4del
ENST00000582450.1:n.114-5_114-4del
ENST00000583074.5:n.227-5_227-4del
ENST00000583850.5:n.381-9_381-8del
ENST00000583858.5:c.537-5_537-4del
ENST00000585203.6:n.797-5_797-4del
NM_000018.3:c.1606-5_1606-4del	NP_000009.1:n.1606-5_1606-4del
NM_001033859.2:c.1540-5_1540-4del	NP_001029031.1:n.1540-5_1540-4del
NM_001270447.1:c.1675-5_1675-4del	NP_001257376.1:n.1675-5_1675-4del
NM_001270448.1:c.1378-5_1378-4del	NP_001257377.1:n.1378-5_1378-4del
XM_006721516.2:c.1606-5_1606-4del	XP_006721579.2:n.1606-5_1606-4del
XM_011523829.1:c.1508-9_1508-8del	XP_011522131.1:n.1508-9_1508-8del
XM_011523830.1:c.1508-9_1508-8del	XP_011522132.1:n.1508-9_1508-8del
XR_934021.1:n.1713-9_1713-8del
XR_934022.1:n.1615-5_1615-4del
XR_934023.1:n.1615-5_1615-4del
XM_006721516.3:c.1606-5_1606-4del	XP_006721579.2:n.1606-5_1606-4del
XM_011523829.2:c.1508-9_1508-8del	XP_011522131.1:n.1508-9_1508-8del
XM_011523830.2:c.1508-9_1508-8del	XP_011522132.1:n.1508-9_1508-8del
XM_024450741.1:c.1589_1590del	XP_024306509.1:p.Leu530GlnfsTer27
XR_934021.2:n.1665-9_1665-8del
XR_934022.2:n.1567-5_1567-4del
XR_934023.2:n.1567-5_1567-4del
NM_000018.4:c.1606-5_1606-4del MANE Select	NP_000009.1:n.1606-5_1606-4del
NM_001033859.3:c.1540-5_1540-4del	NP_001029031.1:n.1540-5_1540-4del
NM_001270447.2:c.1675-5_1675-4del	NP_001257376.1:n.1675-5_1675-4del
NM_001270448.2:c.1378-5_1378-4del	NP_001257377.1:n.1378-5_1378-4del