Canonical Allele Identifier: CA774741685

Gene: ACADVL

Linked Data

• dbSNP Id: rs35999860
• gnomAD v3: 17-7221420-C-CACTGCCCTAGGTCAGGA
• gnomAD v4: 17-7221420-C-CACTGCCCTAGGTCAGGA
• MyVariant Identifiers: chr17:g.7124739_7124740insACTGCCCTAGGTCAGGA (hg19) ; chr17:g.7221420_7221421insACTGCCCTAGGTCAGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221446_7221462dup , CM000679.2:g.7221446_7221462dup	GRCh38
NC_000017.10:g.7124765_7124781dup , CM000679.1:g.7124765_7124781dup	GRCh37
NC_000017.9:g.7065489_7065505dup	NCBI36
NG_007975.1:g.6613_6629dup
NG_008391.2:g.3614_3630dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-92_478-76dup MANE Select	ENSP00000349297.5:n.478-92_478-76dup
ENST00000322910.9:c.*433-92_*433-76dup	ENSP00000325395.5:n.*433-92_*433-76dup
ENST00000350303.9:c.412-92_412-76dup	ENSP00000344152.5:n.412-92_412-76dup
ENST00000356839.9:c.478-92_478-76dup	ENSP00000349297.5:n.478-92_478-76dup
ENST00000543245.6:c.547-92_547-76dup	ENSP00000438689.2:n.547-92_547-76dup
ENST00000577191.5:n.555-92_555-76dup
ENST00000577433.5:n.686-92_686-76dup
ENST00000577857.5:n.294-92_294-76dup
ENST00000579286.5:n.659-92_659-76dup
ENST00000579886.2:c.316-92_316-76dup	ENSP00000463246.1:n.316-92_316-76dup
ENST00000580365.1:n.209-92_209-76dup
ENST00000581378.5:c.177-73_177-57dup
ENST00000581562.5:n.524+388_524+404dup
ENST00000582166.1:n.459-92_459-76dup
ENST00000583312.5:c.478-92_478-76dup	ENSP00000467920.1:n.478-92_478-76dup
ENST00000583760.1:n.168_184dup
NM_000018.3:c.478-92_478-76dup	NP_000009.1:n.478-92_478-76dup
NM_001033859.2:c.412-92_412-76dup	NP_001029031.1:n.412-92_412-76dup
NM_001270447.1:c.547-92_547-76dup	NP_001257376.1:n.547-92_547-76dup
NM_001270448.1:c.250-92_250-76dup	NP_001257377.1:n.250-92_250-76dup
XM_006721516.2:c.478-92_478-76dup	XP_006721579.2:n.478-92_478-76dup
XM_011523829.1:c.478-92_478-76dup	XP_011522131.1:n.478-92_478-76dup
XM_011523830.1:c.478-92_478-76dup	XP_011522132.1:n.478-92_478-76dup
XR_934021.1:n.585-92_585-76dup
XR_934022.1:n.585-92_585-76dup
XR_934023.1:n.585-92_585-76dup
XM_006721516.3:c.478-92_478-76dup	XP_006721579.2:n.478-92_478-76dup
XM_011523829.2:c.478-92_478-76dup	XP_011522131.1:n.478-92_478-76dup
XM_011523830.2:c.478-92_478-76dup	XP_011522132.1:n.478-92_478-76dup
XM_024450741.1:c.478-92_478-76dup	XP_024306509.1:n.478-92_478-76dup
XR_934021.2:n.537-92_537-76dup
XR_934022.2:n.537-92_537-76dup
XR_934023.2:n.537-92_537-76dup
NM_000018.4:c.478-92_478-76dup MANE Select	NP_000009.1:n.478-92_478-76dup
NM_001033859.3:c.412-92_412-76dup	NP_001029031.1:n.412-92_412-76dup
NM_001270447.2:c.547-92_547-76dup	NP_001257376.1:n.547-92_547-76dup
NM_001270448.2:c.250-92_250-76dup	NP_001257377.1:n.250-92_250-76dup