Canonical Allele Identifier: CA2580094804

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1724090
• ClinVar RCV Id: RCV002306645

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221987_7221988del , CM000679.2:g.7221987_7221988del	GRCh38
NC_000017.10:g.7125306_7125307del , CM000679.1:g.7125306_7125307del	GRCh37
NC_000017.9:g.7066030_7066031del	NCBI36
NG_007975.1:g.7154_7155del
NG_008391.2:g.3064_3065del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.658_659del MANE Select	ENSP00000349297.5:p.Ser220LysfsTer?
ENST00000322910.9:c.*613_*614del	ENSP00000325395.5:n.*613_*614del
ENST00000350303.9:c.592_593del	ENSP00000344152.5:p.Ser198LysfsTer?
ENST00000356839.9:c.658_659del	ENSP00000349297.5:p.Ser220LysfsTer?
ENST00000543245.6:c.727_728del	ENSP00000438689.2:p.Ser243LysfsTer?
ENST00000577191.5:n.735_736del
ENST00000577857.5:n.474_475del
ENST00000579286.5:n.839_840del
ENST00000580365.1:n.389_390del
ENST00000581378.5:c.376_377del
ENST00000581562.5:n.560_561del
ENST00000582379.1:n.42_43del
ENST00000583312.5:c.673_674del
ENST00000583760.1:n.440_441del
NM_000018.3:c.658_659del	NP_000009.1:p.Ser220LysfsTer?
NM_001033859.2:c.592_593del	NP_001029031.1:p.Ser198LysfsTer?
NM_001270447.1:c.727_728del	NP_001257376.1:p.Ser243LysfsTer?
NM_001270448.1:c.430_431del	NP_001257377.1:p.Ser144LysfsTer?
XM_006721516.2:c.658_659del	XP_006721579.2:p.Ser220LysfsTer?
XM_011523829.1:c.658_659del	XP_011522131.1:p.Ser220LysfsTer?
XM_011523830.1:c.658_659del	XP_011522132.1:p.Ser220LysfsTer?
XR_934021.1:n.765_766del
XR_934022.1:n.765_766del
XR_934023.1:n.765_766del
XM_006721516.3:c.658_659del	XP_006721579.2:p.Ser220LysfsTer?
XM_011523829.2:c.658_659del	XP_011522131.1:p.Ser220LysfsTer?
XM_011523830.2:c.658_659del	XP_011522132.1:p.Ser220LysfsTer?
XM_024450741.1:c.658_659del	XP_024306509.1:p.Ser220LysfsTer?
XR_934021.2:n.717_718del
XR_934022.2:n.717_718del
XR_934023.2:n.717_718del
NM_000018.4:c.658_659del MANE Select	NP_000009.1:p.Ser220LysfsTer?
NM_001033859.3:c.592_593del	NP_001029031.1:p.Ser198LysfsTer?
NM_001270447.2:c.727_728del	NP_001257376.1:p.Ser243LysfsTer?
NM_001270448.2:c.430_431del	NP_001257377.1:p.Ser144LysfsTer?