Canonical Allele Identifier: CA16620599
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 422932
ClinVar RCV Id: RCV000487087 RCV003322775
dbSNP Id: rs1064796104
MyVariant Identifiers: chr17:g.7124981_7124982del (hg19) chr17:g.7221662_7221663del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221662_7221663del , CM000679.2:g.7221662_7221663del GRCh38
NC_000017.10:g.7124981_7124982del , CM000679.1:g.7124981_7124982del GRCh37
NC_000017.9:g.7065705_7065706del NCBI36
NG_007975.1:g.6829_6830del
NG_008391.2:g.3388_3389del

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.602_603del MANE Select ENSP00000349297.5:p.Tyr201SerfsTer?
ENST00000322910.9:c.*557_*558del ENSP00000325395.5:n.*557_*558del
ENST00000350303.9:c.536_537del ENSP00000344152.5:p.Tyr179SerfsTer?
ENST00000356839.9:c.602_603del ENSP00000349297.5:p.Tyr201SerfsTer?
ENST00000543245.6:c.671_672del ENSP00000438689.2:p.Tyr224SerfsTer?
ENST00000577191.5:n.679_680del
ENST00000577857.5:n.418_419del
ENST00000579286.5:n.783_784del
ENST00000579886.2:c.440_441del ENSP00000463246.1:p.Tyr147SerfsTer?
ENST00000580365.1:n.333_334del
ENST00000581378.5:c.320_321del
ENST00000581562.5:n.525-290_525-289del
ENST00000583312.5:c.602_603del ENSP00000467920.1:p.Tyr201SerfsTer?
ENST00000583760.1:n.384_385del
NM_000018.3:c.602_603del NP_000009.1:p.Tyr201SerfsTer?
NM_001033859.2:c.536_537del NP_001029031.1:p.Tyr179SerfsTer?
NM_001270447.1:c.671_672del NP_001257376.1:p.Tyr224SerfsTer?
NM_001270448.1:c.374_375del NP_001257377.1:p.Tyr125SerfsTer?
XM_006721516.2:c.602_603del XP_006721579.2:p.Tyr201SerfsTer?
XM_011523829.1:c.602_603del XP_011522131.1:p.Tyr201SerfsTer?
XM_011523830.1:c.602_603del XP_011522132.1:p.Tyr201SerfsTer?
XR_934021.1:n.709_710del
XR_934022.1:n.709_710del
XR_934023.1:n.709_710del
XM_006721516.3:c.602_603del XP_006721579.2:p.Tyr201SerfsTer?
XM_011523829.2:c.602_603del XP_011522131.1:p.Tyr201SerfsTer?
XM_011523830.2:c.602_603del XP_011522132.1:p.Tyr201SerfsTer?
XM_024450741.1:c.602_603del XP_024306509.1:p.Tyr201SerfsTer?
XR_934021.2:n.661_662del
XR_934022.2:n.661_662del
XR_934023.2:n.661_662del
NM_000018.4:c.602_603del MANE Select NP_000009.1:p.Tyr201SerfsTer?
NM_001033859.3:c.536_537del NP_001029031.1:p.Tyr179SerfsTer?
NM_001270447.2:c.671_672del NP_001257376.1:p.Tyr224SerfsTer?
NM_001270448.2:c.374_375del NP_001257377.1:p.Tyr125SerfsTer?
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