Canonical Allele Identifier: CA624860682

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 552315
• ClinVar RCV Id: RCV000667548
• dbSNP Id: rs1452339268
• gnomAD v2: 17-7123966-CCA-C
• gnomAD v4: 17-7220647-CCA-C
• MyVariant Identifiers: chr17:g.7123967_7123968del (hg19) ; chr17:g.7220650_7220651del (hg38) ; chr17:g.7220648_7220649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220650_7220651del , CM000679.2:g.7220650_7220651del	GRCh38
NC_000017.10:g.7123969_7123970del , CM000679.1:g.7123969_7123970del	GRCh37
NC_000017.9:g.7064693_7064694del	NCBI36
NG_007975.1:g.5817_5818del
NG_008391.2:g.4402_4403del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.251_252del MANE Select	ENSP00000349297.5:p.Thr84ArgfsTer19
ENST00000322910.9:c.*206_*207del	ENSP00000325395.5:n.*206_*207del
ENST00000350303.9:c.185_186del	ENSP00000344152.5:p.Thr62ArgfsTer19
ENST00000356839.9:c.251_252del	ENSP00000349297.5:p.Thr84ArgfsTer19
ENST00000543245.6:c.320_321del	ENSP00000438689.2:p.Thr107ArgfsTer19
ENST00000577191.5:n.328_329del
ENST00000577433.5:n.459_460del
ENST00000577857.5:n.229-116_229-115del
ENST00000578269.5:n.698_699del
ENST00000578421.1:n.459_460del
ENST00000579286.5:n.432_433del
ENST00000579886.2:c.201+124_201+125del	ENSP00000463246.1:n.201+124_201+125del
ENST00000580263.5:n.415_416del
ENST00000581562.5:n.298_299del
ENST00000582056.5:n.341_342del
ENST00000582166.1:n.139_140del
ENST00000582356.5:n.450_451del
ENST00000583312.5:c.251_252del	ENSP00000467920.1:p.Thr84ArgfsTer19
ENST00000584103.5:c.251_252del	ENSP00000465353.1:p.Thr84ArgfsTer19
NM_000018.3:c.251_252del	NP_000009.1:p.Thr84ArgfsTer19
NM_001033859.2:c.185_186del	NP_001029031.1:p.Thr62ArgfsTer19
NM_001270447.1:c.320_321del	NP_001257376.1:p.Thr107ArgfsTer19
NM_001270448.1:c.23_24del	NP_001257377.1:p.Thr8ArgfsTer19
XM_006721516.2:c.251_252del	XP_006721579.2:p.Thr84ArgfsTer19
XM_011523829.1:c.251_252del	XP_011522131.1:p.Thr84ArgfsTer19
XM_011523830.1:c.251_252del	XP_011522132.1:p.Thr84ArgfsTer19
XR_934021.1:n.358_359del
XR_934022.1:n.358_359del
XR_934023.1:n.358_359del
XM_006721516.3:c.251_252del	XP_006721579.2:p.Thr84ArgfsTer19
XM_011523829.2:c.251_252del	XP_011522131.1:p.Thr84ArgfsTer19
XM_011523830.2:c.251_252del	XP_011522132.1:p.Thr84ArgfsTer19
XM_024450741.1:c.251_252del	XP_024306509.1:p.Thr84ArgfsTer19
XR_934021.2:n.310_311del
XR_934022.2:n.310_311del
XR_934023.2:n.310_311del
NM_000018.4:c.251_252del MANE Select	NP_000009.1:p.Thr84ArgfsTer19
NM_001033859.3:c.185_186del	NP_001029031.1:p.Thr62ArgfsTer19
NM_001270447.2:c.320_321del	NP_001257376.1:p.Thr107ArgfsTer19
NM_001270448.2:c.23_24del	NP_001257377.1:p.Thr8ArgfsTer19