Canonical Allele Identifier: CA8337722

Gene: ACADVL

Linked Data

• dbSNP Id: rs756675737
• ExAC: 17:7124797 CTGT / C
• gnomAD v2: 17-7124797-CTGT-C
• gnomAD v3: 17-7221478-CTGT-C
• gnomAD v4: 17-7221478-CTGT-C
• MyVariant Identifiers: chr17:g.7124798_7124800del (hg19) ; chr17:g.7221479_7221481del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221480_7221482del , CM000679.2:g.7221480_7221482del	GRCh38
NC_000017.10:g.7124799_7124801del , CM000679.1:g.7124799_7124801del	GRCh37
NC_000017.9:g.7065523_7065525del	NCBI36
NG_007975.1:g.6647_6649del
NG_008391.2:g.3570_3572del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-58_478-56del MANE Select	ENSP00000349297.5:n.478-58_478-56del
ENST00000322910.9:c.*433-58_*433-56del	ENSP00000325395.5:n.*433-58_*433-56del
ENST00000350303.9:c.412-58_412-56del	ENSP00000344152.5:n.412-58_412-56del
ENST00000356839.9:c.478-58_478-56del	ENSP00000349297.5:n.478-58_478-56del
ENST00000543245.6:c.547-58_547-56del	ENSP00000438689.2:n.547-58_547-56del
ENST00000577191.5:n.555-58_555-56del
ENST00000577433.5:n.686-58_686-56del
ENST00000577857.5:n.294-58_294-56del
ENST00000579286.5:n.659-58_659-56del
ENST00000579886.2:c.316-58_316-56del	ENSP00000463246.1:n.316-58_316-56del
ENST00000580365.1:n.209-58_209-56del
ENST00000581378.5:c.177-39_177-37del
ENST00000581562.5:n.524+422_524+424del
ENST00000582166.1:n.459-58_459-56del
ENST00000583312.5:c.478-58_478-56del	ENSP00000467920.1:n.478-58_478-56del
ENST00000583760.1:n.202_204del
NM_000018.3:c.478-58_478-56del	NP_000009.1:n.478-58_478-56del
NM_001033859.2:c.412-58_412-56del	NP_001029031.1:n.412-58_412-56del
NM_001270447.1:c.547-58_547-56del	NP_001257376.1:n.547-58_547-56del
NM_001270448.1:c.250-58_250-56del	NP_001257377.1:n.250-58_250-56del
XM_006721516.2:c.478-58_478-56del	XP_006721579.2:n.478-58_478-56del
XM_011523829.1:c.478-58_478-56del	XP_011522131.1:n.478-58_478-56del
XM_011523830.1:c.478-58_478-56del	XP_011522132.1:n.478-58_478-56del
XR_934021.1:n.585-58_585-56del
XR_934022.1:n.585-58_585-56del
XR_934023.1:n.585-58_585-56del
XM_006721516.3:c.478-58_478-56del	XP_006721579.2:n.478-58_478-56del
XM_011523829.2:c.478-58_478-56del	XP_011522131.1:n.478-58_478-56del
XM_011523830.2:c.478-58_478-56del	XP_011522132.1:n.478-58_478-56del
XM_024450741.1:c.478-58_478-56del	XP_024306509.1:n.478-58_478-56del
XR_934021.2:n.537-58_537-56del
XR_934022.2:n.537-58_537-56del
XR_934023.2:n.537-58_537-56del
NM_000018.4:c.478-58_478-56del MANE Select	NP_000009.1:n.478-58_478-56del
NM_001033859.3:c.412-58_412-56del	NP_001029031.1:n.412-58_412-56del
NM_001270447.2:c.547-58_547-56del	NP_001257376.1:n.547-58_547-56del
NM_001270448.2:c.250-58_250-56del	NP_001257377.1:n.250-58_250-56del