Canonical Allele Identifier: CA8337477

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs369086959
• ExAC: 17:7123231 G / GT
• gnomAD v2: 17-7123231-G-GT
• gnomAD v4: 17-7219912-G-GT
• MyVariant Identifiers: chr17:g.7123231_7123232insT (hg19) ; chr17:g.7219912_7219913insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219912_7219913insT , CM000679.2:g.7219912_7219913insT	GRCh38
NC_000017.10:g.7123231_7123232insT , CM000679.1:g.7123231_7123232insT	GRCh37
NC_000017.9:g.7063955_7063956insT	NCBI36
NG_007975.1:g.5079_5080insT
NG_008391.2:g.5138_5139insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-73_-72insT (ACADVL)	ENSP00000325395.5:n.-73_-72insT
ENST00000350303.9:c.-73_-72insT (ACADVL)	ENSP00000344152.5:n.-73_-72insT
ENST00000356839.9:c.-73_-72insT (ACADVL)	ENSP00000349297.5:n.-73_-72insT
ENST00000543245.6:c.132-210_132-209insT (ACADVL)	ENSP00000438689.2:n.132-210_132-209insT
ENST00000577191.5:n.5_6insT (ACADVL)
ENST00000577857.5:n.18_19insT (ACADVL)
ENST00000578269.5:n.35_36insT (ACADVL)
ENST00000579286.5:n.35_36insT (ACADVL)
ENST00000580263.5:n.18_19insT (ACADVL)
ENST00000582056.5:n.18_19insT (ACADVL)
ENST00000582356.5:n.53_54insT (ACADVL)
ENST00000583312.5:c.-73_-72insT (ACADVL)	ENSP00000467920.1:n.-73_-72insT
ENST00000584103.5:c.-73_-72insT (ACADVL)	ENSP00000465353.1:n.-73_-72insT
NM_000018.3:c.-73_-72insT (ACADVL)	NP_000009.1:n.-73_-72insT
NM_001033859.2:c.-73_-72insT (ACADVL)	NP_001029031.1:n.-73_-72insT
NM_001270447.1:c.132-210_132-209insT (ACADVL)	NP_001257376.1:n.132-210_132-209insT
NM_001270448.1:c.-376_-375insT (ACADVL)	NP_001257377.1:n.-376_-375insT
NM_001365.3:c.-1064_-1063insA (DLG4)	NP_001356.1:n.-1064_-1063insA
XM_006721516.2:c.-73_-72insT (ACADVL)	XP_006721579.2:n.-73_-72insT
XM_011523829.1:c.-73_-72insT (ACADVL)	XP_011522131.1:n.-73_-72insT
XM_011523830.1:c.-73_-72insT (ACADVL)	XP_011522132.1:n.-73_-72insT
XR_934021.1:n.35_36insT (ACADVL)
XR_934022.1:n.35_36insT (ACADVL)
XR_934023.1:n.35_36insT (ACADVL)
NM_001321074.1:c.-1064_-1063insA (DLG4)	NP_001308003.1:n.-1064_-1063insA
NM_001365.4:c.-1064_-1063insA (DLG4)	NP_001356.1:n.-1064_-1063insA
NR_135527.1:n.138_139insA (DLG4)
NM_001270447.2:c.132-210_132-209insT (ACADVL)	NP_001257376.1:n.132-210_132-209insT