Canonical Allele Identifier: CA2635781060

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221426-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221427_7221428del , CM000679.2:g.7221427_7221428del	GRCh38
NC_000017.10:g.7124746_7124747del , CM000679.1:g.7124746_7124747del	GRCh37
NC_000017.9:g.7065470_7065471del	NCBI36
NG_007975.1:g.6594_6595del
NG_008391.2:g.3623_3624del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-111_478-110del MANE Select	ENSP00000349297.5:n.478-111_478-110del
ENST00000322910.9:c.*433-111_*433-110del	ENSP00000325395.5:n.*433-111_*433-110del
ENST00000350303.9:c.412-111_412-110del	ENSP00000344152.5:n.412-111_412-110del
ENST00000356839.9:c.478-111_478-110del	ENSP00000349297.5:n.478-111_478-110del
ENST00000543245.6:c.547-111_547-110del	ENSP00000438689.2:n.547-111_547-110del
ENST00000577191.5:n.555-111_555-110del
ENST00000577433.5:n.686-111_686-110del
ENST00000577857.5:n.294-111_294-110del
ENST00000579286.5:n.659-111_659-110del
ENST00000579886.2:c.316-111_316-110del	ENSP00000463246.1:n.316-111_316-110del
ENST00000580365.1:n.209-111_209-110del
ENST00000581378.5:c.177-92_177-91del
ENST00000581562.5:n.524+369_524+370del
ENST00000582166.1:n.459-111_459-110del
ENST00000583312.5:c.478-111_478-110del	ENSP00000467920.1:n.478-111_478-110del
ENST00000583760.1:n.149_150del
NM_000018.3:c.478-111_478-110del	NP_000009.1:n.478-111_478-110del
NM_001033859.2:c.412-111_412-110del	NP_001029031.1:n.412-111_412-110del
NM_001270447.1:c.547-111_547-110del	NP_001257376.1:n.547-111_547-110del
NM_001270448.1:c.250-111_250-110del	NP_001257377.1:n.250-111_250-110del
XM_006721516.2:c.478-111_478-110del	XP_006721579.2:n.478-111_478-110del
XM_011523829.1:c.478-111_478-110del	XP_011522131.1:n.478-111_478-110del
XM_011523830.1:c.478-111_478-110del	XP_011522132.1:n.478-111_478-110del
XR_934021.1:n.585-111_585-110del
XR_934022.1:n.585-111_585-110del
XR_934023.1:n.585-111_585-110del
XM_006721516.3:c.478-111_478-110del	XP_006721579.2:n.478-111_478-110del
XM_011523829.2:c.478-111_478-110del	XP_011522131.1:n.478-111_478-110del
XM_011523830.2:c.478-111_478-110del	XP_011522132.1:n.478-111_478-110del
XM_024450741.1:c.478-111_478-110del	XP_024306509.1:n.478-111_478-110del
XR_934021.2:n.537-111_537-110del
XR_934022.2:n.537-111_537-110del
XR_934023.2:n.537-111_537-110del
NM_000018.4:c.478-111_478-110del MANE Select	NP_000009.1:n.478-111_478-110del
NM_001033859.3:c.412-111_412-110del	NP_001029031.1:n.412-111_412-110del
NM_001270447.2:c.547-111_547-110del	NP_001257376.1:n.547-111_547-110del
NM_001270448.2:c.250-111_250-110del	NP_001257377.1:n.250-111_250-110del