Canonical Allele Identifier: CA2245700175

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071229128
• gnomAD v3: 17-7221593-TG-T
• gnomAD v4: 17-7221593-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221598del , CM000679.2:g.7221598del	GRCh38
NC_000017.10:g.7124917del , CM000679.1:g.7124917del	GRCh37
NC_000017.9:g.7065641del	NCBI36
NG_007975.1:g.6765del
NG_008391.2:g.3457del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.538del MANE Select	ENSP00000349297.5:p.Ala180ProfsTer?
ENST00000322910.9:c.*493del	ENSP00000325395.5:n.*493del
ENST00000350303.9:c.472del	ENSP00000344152.5:p.Ala158ProfsTer?
ENST00000356839.9:c.538del	ENSP00000349297.5:p.Ala180ProfsTer?
ENST00000543245.6:c.607del	ENSP00000438689.2:p.Ala203ProfsTer?
ENST00000577191.5:n.615del
ENST00000577433.5:n.746del
ENST00000577857.5:n.354del
ENST00000579286.5:n.719del
ENST00000579886.2:c.376del	ENSP00000463246.1:p.Ala126ProfsTer?
ENST00000580365.1:n.269del
ENST00000581378.5:c.256del
ENST00000581562.5:n.525-354del
ENST00000582166.1:n.519del
ENST00000583312.5:c.538del	ENSP00000467920.1:p.Ala180ProfsTer?
ENST00000583760.1:n.320del
NM_000018.3:c.538del	NP_000009.1:p.Ala180ProfsTer?
NM_001033859.2:c.472del	NP_001029031.1:p.Ala158ProfsTer?
NM_001270447.1:c.607del	NP_001257376.1:p.Ala203ProfsTer?
NM_001270448.1:c.310del	NP_001257377.1:p.Ala104ProfsTer?
XM_006721516.2:c.538del	XP_006721579.2:p.Ala180ProfsTer?
XM_011523829.1:c.538del	XP_011522131.1:p.Ala180ProfsTer?
XM_011523830.1:c.538del	XP_011522132.1:p.Ala180ProfsTer?
XR_934021.1:n.645del
XR_934022.1:n.645del
XR_934023.1:n.645del
XM_006721516.3:c.538del	XP_006721579.2:p.Ala180ProfsTer?
XM_011523829.2:c.538del	XP_011522131.1:p.Ala180ProfsTer?
XM_011523830.2:c.538del	XP_011522132.1:p.Ala180ProfsTer?
XM_024450741.1:c.538del	XP_024306509.1:p.Ala180ProfsTer?
XR_934021.2:n.597del
XR_934022.2:n.597del
XR_934023.2:n.597del
NM_000018.4:c.538del MANE Select	NP_000009.1:p.Ala180ProfsTer?
NM_001033859.3:c.472del	NP_001029031.1:p.Ala158ProfsTer?
NM_001270447.2:c.607del	NP_001257376.1:p.Ala203ProfsTer?
NM_001270448.2:c.310del	NP_001257377.1:p.Ala104ProfsTer?