Canonical Allele Identifier: CA2635779440

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220153-CGGCCCGGCCCTGCCCGGCGGCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220154_7220177del , CM000679.2:g.7220154_7220177del	GRCh38
NC_000017.10:g.7123473_7123496del , CM000679.1:g.7123473_7123496del	GRCh37
NC_000017.9:g.7064197_7064220del	NCBI36
NG_007975.1:g.5321_5344del
NG_008391.2:g.4874_4897del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.95_118del MANE Select	ENSP00000349297.5:p.Arg32_Tyr40delinsHis
ENST00000322910.9:c.*50_*73del	ENSP00000325395.5:n.*50_*73del
ENST00000350303.9:c.95_118del	ENSP00000344152.5:p.Arg32_Tyr40delinsHis
ENST00000356839.9:c.95_118del	ENSP00000349297.5:p.Arg32_Tyr40delinsHis
ENST00000543245.6:c.164_187del	ENSP00000438689.2:p.Arg55_Tyr63delinsHis
ENST00000577191.5:n.172_195del
ENST00000577857.5:n.185_208del
ENST00000578269.5:n.202_225del
ENST00000578421.1:n.229_252del
ENST00000579286.5:n.202_225del
ENST00000579886.2:c.95_118del	ENSP00000463246.1:p.Arg32_Tyr40delinsHis
ENST00000580263.5:n.185_208del
ENST00000581562.5:n.142_165del
ENST00000582056.5:n.185_208del
ENST00000582356.5:n.220_243del
ENST00000583312.5:c.95_118del	ENSP00000467920.1:p.Arg32_Tyr40delinsHis
ENST00000584103.5:c.95_118del	ENSP00000465353.1:p.Arg32_Tyr40delinsHis
NM_000018.3:c.95_118del	NP_000009.1:p.Arg32_Tyr40delinsHis
NM_001033859.2:c.95_118del	NP_001029031.1:p.Arg32_Tyr40delinsHis
NM_001270447.1:c.164_187del	NP_001257376.1:p.Arg55_Tyr63delinsHis
NM_001270448.1:c.-134_-111del	NP_001257377.1:n.-134_-111del
XM_006721516.2:c.95_118del	XP_006721579.2:p.Arg32_Tyr40delinsHis
XM_011523829.1:c.95_118del	XP_011522131.1:p.Arg32_Tyr40delinsHis
XM_011523830.1:c.95_118del	XP_011522132.1:p.Arg32_Tyr40delinsHis
XR_934021.1:n.202_225del
XR_934022.1:n.202_225del
XR_934023.1:n.202_225del
XM_006721516.3:c.95_118del	XP_006721579.2:p.Arg32_Tyr40delinsHis
XM_011523829.2:c.95_118del	XP_011522131.1:p.Arg32_Tyr40delinsHis
XM_011523830.2:c.95_118del	XP_011522132.1:p.Arg32_Tyr40delinsHis
XM_024450741.1:c.95_118del	XP_024306509.1:p.Arg32_Tyr40delinsHis
XR_934021.2:n.154_177del
XR_934022.2:n.154_177del
XR_934023.2:n.154_177del
NM_000018.4:c.95_118del MANE Select	NP_000009.1:p.Arg32_Tyr40delinsHis
NM_001033859.3:c.95_118del	NP_001029031.1:p.Arg32_Tyr40delinsHis
NM_001270447.2:c.164_187del	NP_001257376.1:p.Arg55_Tyr63delinsHis
NM_001270448.2:c.-134_-111del	NP_001257377.1:n.-134_-111del