Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219920_7219921insCGGGCGTGCAGGACG , CM000679.2:g.7219920_7219921insCGGGCGTGCAGGACG	GRCh38
NC_000017.10:g.7123239_7123240insCGGGCGTGCAGGACG , CM000679.1:g.7123239_7123240insCGGGCGTGCAGGACG	GRCh37
NC_000017.9:g.7063963_7063964insCGGGCGTGCAGGACG	NCBI36
NG_007975.1:g.5087_5088insCGGGCGTGCAGGACG
NG_008391.2:g.5137_5138insCACGCCCGCGTCCTG

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.3:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	NP_000009.1:n.-65_-64insCGGGCGTGCAGGACG
NM_001033859.2:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	NP_001029031.1:n.-65_-64insCGGGCGTGCAGGACG
NM_001270447.1:c.132-202_132-201insCGGGCGTGCAGGACG (ACADVL)	NP_001257376.1:n.132-202_132-201insCGGGCGTGCAGGACG
NM_001270447.2:c.132-202_132-201insCGGGCGTGCAGGACG (ACADVL)	NP_001257376.1:n.132-202_132-201insCGGGCGTGCAGGACG
NM_001270448.1:c.-368_-367insCGGGCGTGCAGGACG (ACADVL)	NP_001257377.1:n.-368_-367insCGGGCGTGCAGGACG
NM_001321074.1:c.-1065_-1064insCACGCCCGCGTCCTG (DLG4)	NP_001308003.1:n.-1065_-1064insCACGCCCGCGTCCTG
NM_001365.3:c.-1065_-1064insCACGCCCGCGTCCTG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCGCGTCCTG
NM_001365.4:c.-1065_-1064insCACGCCCGCGTCCTG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCGCGTCCTG
NR_135527.1:n.137_138insCACGCCCGCGTCCTG (DLG4)
ENST00000322910.9:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	ENSP00000325395.5:n.-65_-64insCGGGCGTGCAGGACG
ENST00000350303.9:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	ENSP00000344152.5:n.-65_-64insCGGGCGTGCAGGACG
ENST00000356839.9:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	ENSP00000349297.5:n.-65_-64insCGGGCGTGCAGGACG
ENST00000543245.6:c.132-202_132-201insCGGGCGTGCAGGACG (ACADVL)	ENSP00000438689.2:n.132-202_132-201insCGGGCGTGCAGGACG
ENST00000577191.5:n.13_14insCGGGCGTGCAGGACG (ACADVL)
ENST00000577857.5:n.26_27insCGGGCGTGCAGGACG (ACADVL)
ENST00000578269.5:n.43_44insCGGGCGTGCAGGACG (ACADVL)
ENST00000579286.5:n.43_44insCGGGCGTGCAGGACG (ACADVL)
ENST00000580263.5:n.26_27insCGGGCGTGCAGGACG (ACADVL)
ENST00000582056.5:n.26_27insCGGGCGTGCAGGACG (ACADVL)
ENST00000582356.5:n.61_62insCGGGCGTGCAGGACG (ACADVL)
ENST00000583312.5:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	ENSP00000467920.1:n.-65_-64insCGGGCGTGCAGGACG
ENST00000584103.5:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	ENSP00000465353.1:n.-65_-64insCGGGCGTGCAGGACG
XM_006721516.2:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	XP_006721579.2:n.-65_-64insCGGGCGTGCAGGACG
XM_011523829.1:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	XP_011522131.1:n.-65_-64insCGGGCGTGCAGGACG
XM_011523830.1:c.-65_-64insCGGGCGTGCAGGACG (ACADVL)	XP_011522132.1:n.-65_-64insCGGGCGTGCAGGACG
XR_934021.1:n.43_44insCGGGCGTGCAGGACG (ACADVL)
XR_934022.1:n.43_44insCGGGCGTGCAGGACG (ACADVL)
XR_934023.1:n.43_44insCGGGCGTGCAGGACG (ACADVL)