Canonical Allele Identifier: CA2635780140

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220659-TGTTCCCATACCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220662_7220673del , CM000679.2:g.7220662_7220673del	GRCh38
NC_000017.10:g.7123981_7123992del , CM000679.1:g.7123981_7123992del	GRCh37
NC_000017.9:g.7064705_7064716del	NCBI36
NG_007975.1:g.5829_5840del
NG_008391.2:g.4380_4391del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.263_274del MANE Select	ENSP00000349297.5:p.Phe88_Pro91del
ENST00000322910.9:c.*218_*229del	ENSP00000325395.5:n.*218_*229del
ENST00000350303.9:c.197_208del	ENSP00000344152.5:p.Phe66_Pro69del
ENST00000356839.9:c.263_274del	ENSP00000349297.5:p.Phe88_Pro91del
ENST00000543245.6:c.332_343del	ENSP00000438689.2:p.Phe111_Pro114del
ENST00000577191.5:n.340_351del
ENST00000577433.5:n.471_482del
ENST00000577857.5:n.229-104_229-93del
ENST00000578269.5:n.710_721del
ENST00000578421.1:n.471_482del
ENST00000579286.5:n.444_455del
ENST00000579886.2:c.201+136_201+147del	ENSP00000463246.1:n.201+136_201+147del
ENST00000580263.5:n.427_438del
ENST00000581562.5:n.310_321del
ENST00000582056.5:n.353_364del
ENST00000582166.1:n.151_162del
ENST00000582356.5:n.462_473del
ENST00000583312.5:c.263_274del	ENSP00000467920.1:p.Phe88_Pro91del
ENST00000584103.5:c.263_274del	ENSP00000465353.1:p.Phe88_Pro91del
NM_000018.3:c.263_274del	NP_000009.1:p.Phe88_Pro91del
NM_001033859.2:c.197_208del	NP_001029031.1:p.Phe66_Pro69del
NM_001270447.1:c.332_343del	NP_001257376.1:p.Phe111_Pro114del
NM_001270448.1:c.35_46del	NP_001257377.1:p.Phe12_Pro15del
XM_006721516.2:c.263_274del	XP_006721579.2:p.Phe88_Pro91del
XM_011523829.1:c.263_274del	XP_011522131.1:p.Phe88_Pro91del
XM_011523830.1:c.263_274del	XP_011522132.1:p.Phe88_Pro91del
XR_934021.1:n.370_381del
XR_934022.1:n.370_381del
XR_934023.1:n.370_381del
XM_006721516.3:c.263_274del	XP_006721579.2:p.Phe88_Pro91del
XM_011523829.2:c.263_274del	XP_011522131.1:p.Phe88_Pro91del
XM_011523830.2:c.263_274del	XP_011522132.1:p.Phe88_Pro91del
XM_024450741.1:c.263_274del	XP_024306509.1:p.Phe88_Pro91del
XR_934021.2:n.322_333del
XR_934022.2:n.322_333del
XR_934023.2:n.322_333del
NM_000018.4:c.263_274del MANE Select	NP_000009.1:p.Phe88_Pro91del
NM_001033859.3:c.197_208del	NP_001029031.1:p.Phe66_Pro69del
NM_001270447.2:c.332_343del	NP_001257376.1:p.Phe111_Pro114del
NM_001270448.2:c.35_46del	NP_001257377.1:p.Phe12_Pro15del