Canonical Allele Identifier: CA312294

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 203597
• ClinVar RCV Id: RCV000185744 ; RCV001200826
• dbSNP Id: rs796051920
• ExAC: 17:7124876 TCGTGGGCATGCATGACCTTGG / T
• gnomAD v2: 17-7124876-TCGTGGGCATGCATGACCTTGG-T
• gnomAD v4: 17-7221557-TCGTGGGCATGCATGACCTTGG-T
• MyVariant Identifiers: chr17:g.7124886_7124906del (hg19) ; chr17:g.7124877_7124897del (hg19) ; chr17:g.7221567_7221587del (hg38) ; chr17:g.7221558_7221578del (hg38)
• ERepo: CA312294/MONDO:0008723/021

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221567_7221587del , CM000679.2:g.7221567_7221587del	GRCh38
NC_000017.10:g.7124886_7124906del , CM000679.1:g.7124886_7124906del	GRCh37
NC_000017.9:g.7065610_7065630del	NCBI36
NG_007975.1:g.6734_6754del
NG_008391.2:g.3473_3493del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.507_527del MANE Select	ENSP00000349297.5:p.Met169_Gly175del
ENST00000322910.9:c.*462_*482del	ENSP00000325395.5:n.*462_*482del
ENST00000350303.9:c.441_461del	ENSP00000344152.5:p.Met147_Gly153del
ENST00000356839.9:c.507_527del	ENSP00000349297.5:p.Met169_Gly175del
ENST00000543245.6:c.576_596del	ENSP00000438689.2:p.Met192_Gly198del
ENST00000577191.5:n.584_604del
ENST00000577433.5:n.715_735del
ENST00000577857.5:n.323_343del
ENST00000579286.5:n.688_708del
ENST00000579886.2:c.345_365del	ENSP00000463246.1:p.Met115_Gly121del
ENST00000580365.1:n.238_258del
ENST00000581378.5:c.225_245del
ENST00000581562.5:n.525-385_525-365del
ENST00000582166.1:n.488_508del
ENST00000583312.5:c.507_527del	ENSP00000467920.1:p.Met169_Gly175del
ENST00000583760.1:n.289_309del
NM_000018.3:c.507_527del	NP_000009.1:p.Met169_Gly175del
NM_001033859.2:c.441_461del	NP_001029031.1:p.Met147_Gly153del
NM_001270447.1:c.576_596del	NP_001257376.1:p.Met192_Gly198del
NM_001270448.1:c.279_299del	NP_001257377.1:p.Met93_Gly99del
XM_006721516.2:c.507_527del	XP_006721579.2:p.Met169_Gly175del
XM_011523829.1:c.507_527del	XP_011522131.1:p.Met169_Gly175del
XM_011523830.1:c.507_527del	XP_011522132.1:p.Met169_Gly175del
XR_934021.1:n.614_634del
XR_934022.1:n.614_634del
XR_934023.1:n.614_634del
XM_006721516.3:c.507_527del	XP_006721579.2:p.Met169_Gly175del
XM_011523829.2:c.507_527del	XP_011522131.1:p.Met169_Gly175del
XM_011523830.2:c.507_527del	XP_011522132.1:p.Met169_Gly175del
XM_024450741.1:c.507_527del	XP_024306509.1:p.Met169_Gly175del
XR_934021.2:n.566_586del
XR_934022.2:n.566_586del
XR_934023.2:n.566_586del
NM_000018.4:c.507_527del MANE Select	NP_000009.1:p.Met169_Gly175del
NM_001033859.3:c.441_461del	NP_001029031.1:p.Met147_Gly153del
NM_001270447.2:c.576_596del	NP_001257376.1:p.Met192_Gly198del
NM_001270448.2:c.279_299del	NP_001257377.1:p.Met93_Gly99del