Canonical Allele Identifier: CA1139665137

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932854
• ClinVar RCV Id: RCV001200813
• dbSNP Id: rs2071184523

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220985_7220993del , CM000679.2:g.7220985_7220993del	GRCh38
NC_000017.10:g.7124304_7124312del , CM000679.1:g.7124304_7124312del	GRCh37
NC_000017.9:g.7065028_7065036del	NCBI36
NG_007975.1:g.6152_6160del
NG_008391.2:g.4061_4069del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.404_412del MANE Select	ENSP00000349297.5:p.Gly135_Lys137del
ENST00000322910.9:c.*359_*367del	ENSP00000325395.5:n.*359_*367del
ENST00000350303.9:c.338_346del	ENSP00000344152.5:p.Gly113_Lys115del
ENST00000356839.9:c.404_412del	ENSP00000349297.5:p.Gly135_Lys137del
ENST00000543245.6:c.473_481del	ENSP00000438689.2:p.Gly158_Lys160del
ENST00000577191.5:n.481_489del
ENST00000577433.5:n.612_620del
ENST00000577857.5:n.293+155_293+163del
ENST00000579286.5:n.585_593del
ENST00000579886.2:c.242_250del	ENSP00000463246.1:p.Gly81_Lys83del
ENST00000580365.1:n.135_143del
ENST00000581378.5:c.103_111del
ENST00000581562.5:n.451_459del
ENST00000582056.5:n.587_595del
ENST00000582166.1:n.385_393del
ENST00000583312.5:c.404_412del	ENSP00000467920.1:p.Gly135_Lys137del
ENST00000584103.5:c.437_445del	ENSP00000465353.1:p.Gly146_Lys148del
NM_000018.3:c.404_412del	NP_000009.1:p.Gly135_Lys137del
NM_001033859.2:c.338_346del	NP_001029031.1:p.Gly113_Lys115del
NM_001270447.1:c.473_481del	NP_001257376.1:p.Gly158_Lys160del
NM_001270448.1:c.176_184del	NP_001257377.1:p.Gly59_Lys61del
XM_006721516.2:c.404_412del	XP_006721579.2:p.Gly135_Lys137del
XM_011523829.1:c.404_412del	XP_011522131.1:p.Gly135_Lys137del
XM_011523830.1:c.404_412del	XP_011522132.1:p.Gly135_Lys137del
XR_934021.1:n.511_519del
XR_934022.1:n.511_519del
XR_934023.1:n.511_519del
XM_006721516.3:c.404_412del	XP_006721579.2:p.Gly135_Lys137del
XM_011523829.2:c.404_412del	XP_011522131.1:p.Gly135_Lys137del
XM_011523830.2:c.404_412del	XP_011522132.1:p.Gly135_Lys137del
XM_024450741.1:c.404_412del	XP_024306509.1:p.Gly135_Lys137del
XR_934021.2:n.463_471del
XR_934022.2:n.463_471del
XR_934023.2:n.463_471del
NM_000018.4:c.404_412del MANE Select	NP_000009.1:p.Gly135_Lys137del
NM_001033859.3:c.338_346del	NP_001029031.1:p.Gly113_Lys115del
NM_001270447.2:c.473_481del	NP_001257376.1:p.Gly158_Lys160del
NM_001270448.2:c.176_184del	NP_001257377.1:p.Gly59_Lys61del