Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219915_7219916insTGACGTGGGCGTGCA , CM000679.2:g.7219915_7219916insTGACGTGGGCGTGCA	GRCh38
NC_000017.10:g.7123234_7123235insTGACGTGGGCGTGCA , CM000679.1:g.7123234_7123235insTGACGTGGGCGTGCA	GRCh37
NC_000017.9:g.7063958_7063959insTGACGTGGGCGTGCA	NCBI36
NG_007975.1:g.5082_5083insTGACGTGGGCGTGCA
NG_008391.2:g.5137_5138insCACGCCCACGTCATG

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.3:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	NP_000009.1:n.-70_-69insTGACGTGGGCGTGCA
NM_001033859.2:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	NP_001029031.1:n.-70_-69insTGACGTGGGCGTGCA
NM_001270447.1:c.132-207_132-206insTGACGTGGGCGTGCA (ACADVL)	NP_001257376.1:n.132-207_132-206insTGACGTGGGCGTGCA
NM_001270447.2:c.132-207_132-206insTGACGTGGGCGTGCA (ACADVL)	NP_001257376.1:n.132-207_132-206insTGACGTGGGCGTGCA
NM_001270448.1:c.-373_-372insTGACGTGGGCGTGCA (ACADVL)	NP_001257377.1:n.-373_-372insTGACGTGGGCGTGCA
NM_001321074.1:c.-1065_-1064insCACGCCCACGTCATG (DLG4)	NP_001308003.1:n.-1065_-1064insCACGCCCACGTCATG
NM_001365.3:c.-1065_-1064insCACGCCCACGTCATG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCACGTCATG
NM_001365.4:c.-1065_-1064insCACGCCCACGTCATG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCACGTCATG
NR_135527.1:n.137_138insCACGCCCACGTCATG (DLG4)
ENST00000322910.9:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	ENSP00000325395.5:n.-70_-69insTGACGTGGGCGTGCA
ENST00000350303.9:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	ENSP00000344152.5:n.-70_-69insTGACGTGGGCGTGCA
ENST00000356839.9:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	ENSP00000349297.5:n.-70_-69insTGACGTGGGCGTGCA
ENST00000543245.6:c.132-207_132-206insTGACGTGGGCGTGCA (ACADVL)	ENSP00000438689.2:n.132-207_132-206insTGACGTGGGCGTGCA
ENST00000577191.5:n.8_9insTGACGTGGGCGTGCA (ACADVL)
ENST00000577857.5:n.21_22insTGACGTGGGCGTGCA (ACADVL)
ENST00000578269.5:n.38_39insTGACGTGGGCGTGCA (ACADVL)
ENST00000579286.5:n.38_39insTGACGTGGGCGTGCA (ACADVL)
ENST00000580263.5:n.21_22insTGACGTGGGCGTGCA (ACADVL)
ENST00000582056.5:n.21_22insTGACGTGGGCGTGCA (ACADVL)
ENST00000582356.5:n.56_57insTGACGTGGGCGTGCA (ACADVL)
ENST00000583312.5:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	ENSP00000467920.1:n.-70_-69insTGACGTGGGCGTGCA
ENST00000584103.5:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	ENSP00000465353.1:n.-70_-69insTGACGTGGGCGTGCA
XM_006721516.2:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	XP_006721579.2:n.-70_-69insTGACGTGGGCGTGCA
XM_011523829.1:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	XP_011522131.1:n.-70_-69insTGACGTGGGCGTGCA
XM_011523830.1:c.-70_-69insTGACGTGGGCGTGCA (ACADVL)	XP_011522132.1:n.-70_-69insTGACGTGGGCGTGCA
XR_934021.1:n.38_39insTGACGTGGGCGTGCA (ACADVL)
XR_934022.1:n.38_39insTGACGTGGGCGTGCA (ACADVL)
XR_934023.1:n.38_39insTGACGTGGGCGTGCA (ACADVL)