Canonical Allele Identifier: CA2635781137

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221437-A-ACTGCCCTAGGTCAGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221437_7221438insCTGCCCTAGGTCAGGC , CM000679.2:g.7221437_7221438insCTGCCCTAGGTCAGGC	GRCh38
NC_000017.10:g.7124756_7124757insCTGCCCTAGGTCAGGC , CM000679.1:g.7124756_7124757insCTGCCCTAGGTCAGGC	GRCh37
NC_000017.9:g.7065480_7065481insCTGCCCTAGGTCAGGC	NCBI36
NG_007975.1:g.6604_6605insCTGCCCTAGGTCAGGC
NG_008391.2:g.3613_3614insGCCTGACCTAGGGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-101_478-100insCTGCCCTAGGTCAGGC MANE Select	ENSP00000349297.5:n.478-101_478-100insCTG...
ENST00000322910.9:c.*433-101_*433-100insCTGCCCTAGGTCAGGC	ENSP00000325395.5:n.*433-101_*433-100insC...
ENST00000350303.9:c.412-101_412-100insCTGCCCTAGGTCAGGC	ENSP00000344152.5:n.412-101_412-100insCTG...
ENST00000356839.9:c.478-101_478-100insCTGCCCTAGGTCAGGC	ENSP00000349297.5:n.478-101_478-100insCTG...
ENST00000543245.6:c.547-101_547-100insCTGCCCTAGGTCAGGC	ENSP00000438689.2:n.547-101_547-100insCTG...
ENST00000577191.5:n.555-101_555-100insCTGCCCTAGGTCAGGC
ENST00000577433.5:n.686-101_686-100insCTGCCCTAGGTCAGGC
ENST00000577857.5:n.294-101_294-100insCTGCCCTAGGTCAGGC
ENST00000579286.5:n.659-101_659-100insCTGCCCTAGGTCAGGC
ENST00000579886.2:c.316-101_316-100insCTGCCCTAGGTCAGGC	ENSP00000463246.1:n.316-101_316-100insCTG...
ENST00000580365.1:n.209-101_209-100insCTGCCCTAGGTCAGGC
ENST00000581378.5:c.177-82_177-81insCTGCCCTAGGTCAGGC
ENST00000581562.5:n.524+379_524+380insCTGCCCTAGGTCAGGC
ENST00000582166.1:n.459-101_459-100insCTGCCCTAGGTCAGGC
ENST00000583312.5:c.478-101_478-100insCTGCCCTAGGTCAGGC	ENSP00000467920.1:n.478-101_478-100insCTG...
ENST00000583760.1:n.159_160insCTGCCCTAGGTCAGGC
NM_000018.3:c.478-101_478-100insCTGCCCTAGGTCAGGC	NP_000009.1:n.478-101_478-100insCTGCCCTAG...
NM_001033859.2:c.412-101_412-100insCTGCCCTAGGTCAGGC	NP_001029031.1:n.412-101_412-100insCTGCCC...
NM_001270447.1:c.547-101_547-100insCTGCCCTAGGTCAGGC	NP_001257376.1:n.547-101_547-100insCTGCCC...
NM_001270448.1:c.250-101_250-100insCTGCCCTAGGTCAGGC	NP_001257377.1:n.250-101_250-100insCTGCCC...
XM_006721516.2:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_006721579.2:n.478-101_478-100insCTGCCC...
XM_011523829.1:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_011522131.1:n.478-101_478-100insCTGCCC...
XM_011523830.1:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_011522132.1:n.478-101_478-100insCTGCCC...
XR_934021.1:n.585-101_585-100insCTGCCCTAGGTCAGGC
XR_934022.1:n.585-101_585-100insCTGCCCTAGGTCAGGC
XR_934023.1:n.585-101_585-100insCTGCCCTAGGTCAGGC
XM_006721516.3:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_006721579.2:n.478-101_478-100insCTGCCC...
XM_011523829.2:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_011522131.1:n.478-101_478-100insCTGCCC...
XM_011523830.2:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_011522132.1:n.478-101_478-100insCTGCCC...
XM_024450741.1:c.478-101_478-100insCTGCCCTAGGTCAGGC	XP_024306509.1:n.478-101_478-100insCTGCCC...
XR_934021.2:n.537-101_537-100insCTGCCCTAGGTCAGGC
XR_934022.2:n.537-101_537-100insCTGCCCTAGGTCAGGC
XR_934023.2:n.537-101_537-100insCTGCCCTAGGTCAGGC
NM_000018.4:c.478-101_478-100insCTGCCCTAGGTCAGGC MANE Select	NP_000009.1:n.478-101_478-100insCTGCCCTAG...
NM_001033859.3:c.412-101_412-100insCTGCCCTAGGTCAGGC	NP_001029031.1:n.412-101_412-100insCTGCCC...
NM_001270447.2:c.547-101_547-100insCTGCCCTAGGTCAGGC	NP_001257376.1:n.547-101_547-100insCTGCCC...
NM_001270448.2:c.250-101_250-100insCTGCCCTAGGTCAGGC	NP_001257377.1:n.250-101_250-100insCTGCCC...