Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219919_7219920insATGGGCGTGCAGGAC , CM000679.2:g.7219919_7219920insATGGGCGTGCAGGAC	GRCh38
NC_000017.10:g.7123238_7123239insATGGGCGTGCAGGAC , CM000679.1:g.7123238_7123239insATGGGCGTGCAGGAC	GRCh37
NC_000017.9:g.7063962_7063963insATGGGCGTGCAGGAC	NCBI36
NG_007975.1:g.5086_5087insATGGGCGTGCAGGAC
NG_008391.2:g.5137_5138insCACGCCCATGTCCTG

Transcript Alleles

HGVS	Amino-acid Change
NM_000018.3:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	NP_000009.1:n.-66_-65insATGGGCGTGCAGGAC
NM_001033859.2:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	NP_001029031.1:n.-66_-65insATGGGCGTGCAGGAC
NM_001270447.1:c.132-203_132-202insATGGGCGTGCAGGAC (ACADVL)	NP_001257376.1:n.132-203_132-202insATGGGCGTGCAGGAC
NM_001270447.2:c.132-203_132-202insATGGGCGTGCAGGAC (ACADVL)	NP_001257376.1:n.132-203_132-202insATGGGCGTGCAGGAC
NM_001270448.1:c.-369_-368insATGGGCGTGCAGGAC (ACADVL)	NP_001257377.1:n.-369_-368insATGGGCGTGCAGGAC
NM_001321074.1:c.-1065_-1064insCACGCCCATGTCCTG (DLG4)	NP_001308003.1:n.-1065_-1064insCACGCCCATGTCCTG
NM_001365.3:c.-1065_-1064insCACGCCCATGTCCTG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCATGTCCTG
NM_001365.4:c.-1065_-1064insCACGCCCATGTCCTG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCATGTCCTG
NR_135527.1:n.137_138insCACGCCCATGTCCTG (DLG4)
ENST00000322910.9:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	ENSP00000325395.5:n.-66_-65insATGGGCGTGCAGGAC
ENST00000350303.9:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	ENSP00000344152.5:n.-66_-65insATGGGCGTGCAGGAC
ENST00000356839.9:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	ENSP00000349297.5:n.-66_-65insATGGGCGTGCAGGAC
ENST00000543245.6:c.132-203_132-202insATGGGCGTGCAGGAC (ACADVL)	ENSP00000438689.2:n.132-203_132-202insATGGGCGTGCAGGAC
ENST00000577191.5:n.12_13insATGGGCGTGCAGGAC (ACADVL)
ENST00000577857.5:n.25_26insATGGGCGTGCAGGAC (ACADVL)
ENST00000578269.5:n.42_43insATGGGCGTGCAGGAC (ACADVL)
ENST00000579286.5:n.42_43insATGGGCGTGCAGGAC (ACADVL)
ENST00000580263.5:n.25_26insATGGGCGTGCAGGAC (ACADVL)
ENST00000582056.5:n.25_26insATGGGCGTGCAGGAC (ACADVL)
ENST00000582356.5:n.60_61insATGGGCGTGCAGGAC (ACADVL)
ENST00000583312.5:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	ENSP00000467920.1:n.-66_-65insATGGGCGTGCAGGAC
ENST00000584103.5:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	ENSP00000465353.1:n.-66_-65insATGGGCGTGCAGGAC
XM_006721516.2:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	XP_006721579.2:n.-66_-65insATGGGCGTGCAGGAC
XM_011523829.1:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	XP_011522131.1:n.-66_-65insATGGGCGTGCAGGAC
XM_011523830.1:c.-66_-65insATGGGCGTGCAGGAC (ACADVL)	XP_011522132.1:n.-66_-65insATGGGCGTGCAGGAC
XR_934021.1:n.42_43insATGGGCGTGCAGGAC (ACADVL)
XR_934022.1:n.42_43insATGGGCGTGCAGGAC (ACADVL)
XR_934023.1:n.42_43insATGGGCGTGCAGGAC (ACADVL)