Canonical Allele Identifier: CA8337479

Gene: ACADVL DLG4

Linked Data

• dbSNP Id: rs1555527383
• ExAC: 17:7123232 C / CCCGGACGTGGGCGTG
• gnomAD v4: 17-7219913-C-CCCGGACGTGGGCGTG
• MyVariant Identifiers: chr17:g.7123232_7123233insCCGGACGTGGGCGTG (hg19) ; chr17:g.7219913_7219914insCCGGACGTGGGCGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219914_7219915insCGGACGTGGGCGTGC , CM000679.2:g.7219914_7219915insCGGACGTGGGCGTGC	GRCh38
NC_000017.10:g.7123233_7123234insCGGACGTGGGCGTGC , CM000679.1:g.7123233_7123234insCGGACGTGGGCGTGC	GRCh37
NC_000017.9:g.7063957_7063958insCGGACGTGGGCGTGC	NCBI36
NG_007975.1:g.5081_5082insCGGACGTGGGCGTGC
NG_008391.2:g.5137_5138insCACGCCCACGTCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	ENSP00000325395.5:n.-71_-70insCGGACGTGGGCGTGC
ENST00000350303.9:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	ENSP00000344152.5:n.-71_-70insCGGACGTGGGCGTGC
ENST00000356839.9:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	ENSP00000349297.5:n.-71_-70insCGGACGTGGGCGTGC
ENST00000543245.6:c.132-208_132-207insCGGACGTGGGCGTGC (ACADVL)	ENSP00000438689.2:n.132-208_132-207insCGGACGTGGGCGTGC
ENST00000577191.5:n.7_8insCGGACGTGGGCGTGC (ACADVL)
ENST00000577857.5:n.20_21insCGGACGTGGGCGTGC (ACADVL)
ENST00000578269.5:n.37_38insCGGACGTGGGCGTGC (ACADVL)
ENST00000579286.5:n.37_38insCGGACGTGGGCGTGC (ACADVL)
ENST00000580263.5:n.20_21insCGGACGTGGGCGTGC (ACADVL)
ENST00000582056.5:n.20_21insCGGACGTGGGCGTGC (ACADVL)
ENST00000582356.5:n.55_56insCGGACGTGGGCGTGC (ACADVL)
ENST00000583312.5:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	ENSP00000467920.1:n.-71_-70insCGGACGTGGGCGTGC
ENST00000584103.5:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	ENSP00000465353.1:n.-71_-70insCGGACGTGGGCGTGC
NM_000018.3:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	NP_000009.1:n.-71_-70insCGGACGTGGGCGTGC
NM_001033859.2:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	NP_001029031.1:n.-71_-70insCGGACGTGGGCGTGC
NM_001270447.1:c.132-208_132-207insCGGACGTGGGCGTGC (ACADVL)	NP_001257376.1:n.132-208_132-207insCGGACGTGGGCGTGC
NM_001270448.1:c.-374_-373insCGGACGTGGGCGTGC (ACADVL)	NP_001257377.1:n.-374_-373insCGGACGTGGGCGTGC
NM_001365.3:c.-1065_-1064insCACGCCCACGTCCGG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCACGTCCGG
XM_006721516.2:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	XP_006721579.2:n.-71_-70insCGGACGTGGGCGTGC
XM_011523829.1:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	XP_011522131.1:n.-71_-70insCGGACGTGGGCGTGC
XM_011523830.1:c.-71_-70insCGGACGTGGGCGTGC (ACADVL)	XP_011522132.1:n.-71_-70insCGGACGTGGGCGTGC
XR_934021.1:n.37_38insCGGACGTGGGCGTGC (ACADVL)
XR_934022.1:n.37_38insCGGACGTGGGCGTGC (ACADVL)
XR_934023.1:n.37_38insCGGACGTGGGCGTGC (ACADVL)
NM_001321074.1:c.-1065_-1064insCACGCCCACGTCCGG (DLG4)	NP_001308003.1:n.-1065_-1064insCACGCCCACGTCCGG
NM_001365.4:c.-1065_-1064insCACGCCCACGTCCGG (DLG4)	NP_001356.1:n.-1065_-1064insCACGCCCACGTCCGG
NR_135527.1:n.137_138insCACGCCCACGTCCGG (DLG4)
NM_001270447.2:c.132-208_132-207insCGGACGTGGGCGTGC (ACADVL)	NP_001257376.1:n.132-208_132-207insCGGACGTGGGCGTGC