Canonical Allele Identifier: CA2635780205

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220791-TCTTAAAGAGCTGGTGGAGCCTGTGTCCCGTTTCTTCGAGGTAAGGAATGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220794_7220843del , CM000679.2:g.7220794_7220843del	GRCh38
NC_000017.10:g.7124113_7124162del , CM000679.1:g.7124113_7124162del	GRCh37
NC_000017.9:g.7064837_7064886del	NCBI36
NG_007975.1:g.5961_6010del
NG_008391.2:g.4210_4259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.306_342+13del
ENST00000322910.9:c.*261_*297+13del
ENST00000350303.9:c.240_276+13del
ENST00000356839.9:c.306_342+13del
ENST00000543245.6:c.375_411+13del
ENST00000577191.5:n.383_419+13del
ENST00000577433.5:n.514_550+13del
ENST00000577857.5:n.257_293+13del
ENST00000579286.5:n.487_523+13del
ENST00000579886.2:c.202-151_202-102del	ENSP00000463246.1:n.202-151_202-102del
ENST00000580365.1:n.37_73+13del
ENST00000581378.5:c.5_41+13del
ENST00000581562.5:n.353_389+13del
ENST00000582056.5:n.396_445del
ENST00000582166.1:n.194_243del
ENST00000582356.5:n.505_554del
ENST00000583312.5:c.306_342+13del
ENST00000584103.5:c.306_342+13del
NM_000018.3:c.306_342+13del
NM_001033859.2:c.240_276+13del
NM_001270447.1:c.375_411+13del
NM_001270448.1:c.78_114+13del
XM_006721516.2:c.306_342+13del
XM_011523829.1:c.306_342+13del
XM_011523830.1:c.306_342+13del
XR_934021.1:n.413_449+13del
XR_934022.1:n.413_449+13del
XR_934023.1:n.413_449+13del
XM_006721516.3:c.306_342+13del
XM_011523829.2:c.306_342+13del
XM_011523830.2:c.306_342+13del
XM_024450741.1:c.306_342+13del
XR_934021.2:n.365_401+13del
XR_934022.2:n.365_401+13del
XR_934023.2:n.365_401+13del
NM_000018.4:c.306_342+13del
NM_001033859.3:c.240_276+13del
NM_001270447.2:c.375_411+13del
NM_001270448.2:c.78_114+13del