Canonical Allele Identifier: CA2635778337

Gene: ACADVL DLG4

Linked Data

• gnomAD v4: 17-7219913-C-CCAGAACGTGGGCGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219916_7219917insAACGTGGGCGTGCAG , CM000679.2:g.7219916_7219917insAACGTGGGCGTGCAG	GRCh38
NC_000017.10:g.7123235_7123236insAACGTGGGCGTGCAG , CM000679.1:g.7123235_7123236insAACGTGGGCGTGCAG	GRCh37
NC_000017.9:g.7063959_7063960insAACGTGGGCGTGCAG	NCBI36
NG_007975.1:g.5083_5084insAACGTGGGCGTGCAG
NG_008391.2:g.5137_5138insCACGCCCACGTTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	ENSP00000325395.5:n.-69_-68insAACGTGGGCGTGCAG
ENST00000350303.9:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	ENSP00000344152.5:n.-69_-68insAACGTGGGCGTGCAG
ENST00000356839.9:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	ENSP00000349297.5:n.-69_-68insAACGTGGGCGTGCAG
ENST00000543245.6:c.132-206_132-205insAACGTGGGCGTGCAG (ACADVL)	ENSP00000438689.2:n.132-206_132-205insAACGTGGGCGTGCAG
ENST00000577191.5:n.9_10insAACGTGGGCGTGCAG (ACADVL)
ENST00000577857.5:n.22_23insAACGTGGGCGTGCAG (ACADVL)
ENST00000578269.5:n.39_40insAACGTGGGCGTGCAG (ACADVL)
ENST00000579286.5:n.39_40insAACGTGGGCGTGCAG (ACADVL)
ENST00000580263.5:n.22_23insAACGTGGGCGTGCAG (ACADVL)
ENST00000582056.5:n.22_23insAACGTGGGCGTGCAG (ACADVL)
ENST00000582356.5:n.57_58insAACGTGGGCGTGCAG (ACADVL)
ENST00000583312.5:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	ENSP00000467920.1:n.-69_-68insAACGTGGGCGTGCAG
ENST00000584103.5:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	ENSP00000465353.1:n.-69_-68insAACGTGGGCGTGCAG
NM_000018.3:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	NP_000009.1:n.-69_-68insAACGTGGGCGTGCAG
NM_001033859.2:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	NP_001029031.1:n.-69_-68insAACGTGGGCGTGCAG
NM_001270447.1:c.132-206_132-205insAACGTGGGCGTGCAG (ACADVL)	NP_001257376.1:n.132-206_132-205insAACGTGGGCGTGCAG
NM_001270448.1:c.-372_-371insAACGTGGGCGTGCAG (ACADVL)	NP_001257377.1:n.-372_-371insAACGTGGGCGTGCAG
NM_001365.3:c.-1065_-1064insCACGCCCACGTTCTG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCACGTTCTG
XM_006721516.2:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	XP_006721579.2:n.-69_-68insAACGTGGGCGTGCAG
XM_011523829.1:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	XP_011522131.1:n.-69_-68insAACGTGGGCGTGCAG
XM_011523830.1:c.-69_-68insAACGTGGGCGTGCAG (ACADVL)	XP_011522132.1:n.-69_-68insAACGTGGGCGTGCAG
XR_934021.1:n.39_40insAACGTGGGCGTGCAG (ACADVL)
XR_934022.1:n.39_40insAACGTGGGCGTGCAG (ACADVL)
XR_934023.1:n.39_40insAACGTGGGCGTGCAG (ACADVL)
NM_001321074.1:c.-1065_-1064insCACGCCCACGTTCTG (DLG4)	NP_001308003.1:n.-1065_-1064insCACGCCCACGTTCTG
NM_001365.4:c.-1065_-1064insCACGCCCACGTTCTG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCACGTTCTG
NR_135527.1:n.137_138insCACGCCCACGTTCTG (DLG4)
NM_001270447.2:c.132-206_132-205insAACGTGGGCGTGCAG (ACADVL)	NP_001257376.1:n.132-206_132-205insAACGTGGGCGTGCAG