Canonical Allele Identifier: CA981152627

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071217757
• gnomAD v3: 17-7221468-CCA-C
• gnomAD v4: 17-7221468-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221472_7221473del , CM000679.2:g.7221472_7221473del	GRCh38
NC_000017.10:g.7124791_7124792del , CM000679.1:g.7124791_7124792del	GRCh37
NC_000017.9:g.7065515_7065516del	NCBI36
NG_007975.1:g.6639_6640del
NG_008391.2:g.3581_3582del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.478-66_478-65del MANE Select	ENSP00000349297.5:n.478-66_478-65del
ENST00000322910.9:c.*433-66_*433-65del	ENSP00000325395.5:n.*433-66_*433-65del
ENST00000350303.9:c.412-66_412-65del	ENSP00000344152.5:n.412-66_412-65del
ENST00000356839.9:c.478-66_478-65del	ENSP00000349297.5:n.478-66_478-65del
ENST00000543245.6:c.547-66_547-65del	ENSP00000438689.2:n.547-66_547-65del
ENST00000577191.5:n.555-66_555-65del
ENST00000577433.5:n.686-66_686-65del
ENST00000577857.5:n.294-66_294-65del
ENST00000579286.5:n.659-66_659-65del
ENST00000579886.2:c.316-66_316-65del	ENSP00000463246.1:n.316-66_316-65del
ENST00000580365.1:n.209-66_209-65del
ENST00000581378.5:c.177-47_177-46del
ENST00000581562.5:n.524+414_524+415del
ENST00000582166.1:n.459-66_459-65del
ENST00000583312.5:c.478-66_478-65del	ENSP00000467920.1:n.478-66_478-65del
ENST00000583760.1:n.194_195del
NM_000018.3:c.478-66_478-65del	NP_000009.1:n.478-66_478-65del
NM_001033859.2:c.412-66_412-65del	NP_001029031.1:n.412-66_412-65del
NM_001270447.1:c.547-66_547-65del	NP_001257376.1:n.547-66_547-65del
NM_001270448.1:c.250-66_250-65del	NP_001257377.1:n.250-66_250-65del
XM_006721516.2:c.478-66_478-65del	XP_006721579.2:n.478-66_478-65del
XM_011523829.1:c.478-66_478-65del	XP_011522131.1:n.478-66_478-65del
XM_011523830.1:c.478-66_478-65del	XP_011522132.1:n.478-66_478-65del
XR_934021.1:n.585-66_585-65del
XR_934022.1:n.585-66_585-65del
XR_934023.1:n.585-66_585-65del
XM_006721516.3:c.478-66_478-65del	XP_006721579.2:n.478-66_478-65del
XM_011523829.2:c.478-66_478-65del	XP_011522131.1:n.478-66_478-65del
XM_011523830.2:c.478-66_478-65del	XP_011522132.1:n.478-66_478-65del
XM_024450741.1:c.478-66_478-65del	XP_024306509.1:n.478-66_478-65del
XR_934021.2:n.537-66_537-65del
XR_934022.2:n.537-66_537-65del
XR_934023.2:n.537-66_537-65del
NM_000018.4:c.478-66_478-65del MANE Select	NP_000009.1:n.478-66_478-65del
NM_001033859.3:c.412-66_412-65del	NP_001029031.1:n.412-66_412-65del
NM_001270447.2:c.547-66_547-65del	NP_001257376.1:n.547-66_547-65del
NM_001270448.2:c.250-66_250-65del	NP_001257377.1:n.250-66_250-65del