Canonical Allele Identifier: CA1139665136

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932747
• ClinVar RCV Id: RCV001200686
• dbSNP Id: rs2071181405

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220934_7220939del , CM000679.2:g.7220934_7220939del	GRCh38
NC_000017.10:g.7124253_7124258del , CM000679.1:g.7124253_7124258del	GRCh37
NC_000017.9:g.7064977_7064982del	NCBI36
NG_007975.1:g.6101_6106del
NG_008391.2:g.4114_4119del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.353_358del MANE Select	ENSP00000349297.5:p.Asp118_Pro119del
ENST00000322910.9:c.*308_*313del	ENSP00000325395.5:n.*308_*313del
ENST00000350303.9:c.287_292del	ENSP00000344152.5:p.Asp96_Pro97del
ENST00000356839.9:c.353_358del	ENSP00000349297.5:p.Asp118_Pro119del
ENST00000543245.6:c.422_427del	ENSP00000438689.2:p.Asp141_Pro142del
ENST00000577191.5:n.430_435del
ENST00000577433.5:n.561_566del
ENST00000577857.5:n.293+104_293+109del
ENST00000579286.5:n.534_539del
ENST00000579886.2:c.202-11_202-6del	ENSP00000463246.1:n.202-11_202-6del
ENST00000580365.1:n.84_89del
ENST00000581378.5:c.52_57del
ENST00000581562.5:n.400_405del
ENST00000582056.5:n.536_541del
ENST00000582166.1:n.334_339del
ENST00000583312.5:c.353_358del	ENSP00000467920.1:p.Asp118_Pro119del
ENST00000584103.5:c.386_391del	ENSP00000465353.1:p.Asp129_Pro130del
NM_000018.3:c.353_358del	NP_000009.1:p.Asp118_Pro119del
NM_001033859.2:c.287_292del	NP_001029031.1:p.Asp96_Pro97del
NM_001270447.1:c.422_427del	NP_001257376.1:p.Asp141_Pro142del
NM_001270448.1:c.125_130del	NP_001257377.1:p.Asp42_Pro43del
XM_006721516.2:c.353_358del	XP_006721579.2:p.Asp118_Pro119del
XM_011523829.1:c.353_358del	XP_011522131.1:p.Asp118_Pro119del
XM_011523830.1:c.353_358del	XP_011522132.1:p.Asp118_Pro119del
XR_934021.1:n.460_465del
XR_934022.1:n.460_465del
XR_934023.1:n.460_465del
XM_006721516.3:c.353_358del	XP_006721579.2:p.Asp118_Pro119del
XM_011523829.2:c.353_358del	XP_011522131.1:p.Asp118_Pro119del
XM_011523830.2:c.353_358del	XP_011522132.1:p.Asp118_Pro119del
XM_024450741.1:c.353_358del	XP_024306509.1:p.Asp118_Pro119del
XR_934021.2:n.412_417del
XR_934022.2:n.412_417del
XR_934023.2:n.412_417del
NM_000018.4:c.353_358del MANE Select	NP_000009.1:p.Asp118_Pro119del
NM_001033859.3:c.287_292del	NP_001029031.1:p.Asp96_Pro97del
NM_001270447.2:c.422_427del	NP_001257376.1:p.Asp141_Pro142del
NM_001270448.2:c.125_130del	NP_001257377.1:p.Asp42_Pro43del