Canonical Allele Identifier: CA2245698830

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1678835
• ClinVar RCV Id: RCV002226149 ; RCV003093891
• dbSNP Id: rs2071164779

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220735_7220748del , CM000679.2:g.7220735_7220748del	GRCh38
NC_000017.10:g.7124054_7124067del , CM000679.1:g.7124054_7124067del	GRCh37
NC_000017.9:g.7064778_7064791del	NCBI36
NG_007975.1:g.5902_5915del
NG_008391.2:g.4311_4324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.278-31_278-18del MANE Select	ENSP00000349297.5:n.278-31_278-18del
ENST00000322910.9:c.*233-31_*233-18del	ENSP00000325395.5:n.*233-31_*233-18del
ENST00000350303.9:c.212-31_212-18del	ENSP00000344152.5:n.212-31_212-18del
ENST00000356839.9:c.278-31_278-18del	ENSP00000349297.5:n.278-31_278-18del
ENST00000543245.6:c.347-31_347-18del	ENSP00000438689.2:n.347-31_347-18del
ENST00000577191.5:n.355-31_355-18del
ENST00000577433.5:n.486-31_486-18del
ENST00000577857.5:n.229-31_229-18del
ENST00000579286.5:n.459-31_459-18del
ENST00000579886.2:c.202-210_202-197del	ENSP00000463246.1:n.202-210_202-197del
ENST00000580263.5:n.500_513del
ENST00000581562.5:n.325-31_325-18del
ENST00000582056.5:n.368-31_368-18del
ENST00000582166.1:n.166-31_166-18del
ENST00000582356.5:n.477-31_477-18del
ENST00000583312.5:c.278-31_278-18del	ENSP00000467920.1:n.278-31_278-18del
ENST00000584103.5:c.278-31_278-18del	ENSP00000465353.1:n.278-31_278-18del
NM_000018.3:c.278-31_278-18del	NP_000009.1:n.278-31_278-18del
NM_001033859.2:c.212-31_212-18del	NP_001029031.1:n.212-31_212-18del
NM_001270447.1:c.347-31_347-18del	NP_001257376.1:n.347-31_347-18del
NM_001270448.1:c.50-31_50-18del	NP_001257377.1:n.50-31_50-18del
XM_006721516.2:c.278-31_278-18del	XP_006721579.2:n.278-31_278-18del
XM_011523829.1:c.278-31_278-18del	XP_011522131.1:n.278-31_278-18del
XM_011523830.1:c.278-31_278-18del	XP_011522132.1:n.278-31_278-18del
XR_934021.1:n.385-31_385-18del
XR_934022.1:n.385-31_385-18del
XR_934023.1:n.385-31_385-18del
XM_006721516.3:c.278-31_278-18del	XP_006721579.2:n.278-31_278-18del
XM_011523829.2:c.278-31_278-18del	XP_011522131.1:n.278-31_278-18del
XM_011523830.2:c.278-31_278-18del	XP_011522132.1:n.278-31_278-18del
XM_024450741.1:c.278-31_278-18del	XP_024306509.1:n.278-31_278-18del
XR_934021.2:n.337-31_337-18del
XR_934022.2:n.337-31_337-18del
XR_934023.2:n.337-31_337-18del
NM_000018.4:c.278-31_278-18del MANE Select	NP_000009.1:n.278-31_278-18del
NM_001033859.3:c.212-31_212-18del	NP_001029031.1:n.212-31_212-18del
NM_001270447.2:c.347-31_347-18del	NP_001257376.1:n.347-31_347-18del
NM_001270448.2:c.50-31_50-18del	NP_001257377.1:n.50-31_50-18del