Canonical Allele Identifier: CA2635780981

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221401-GGGGATGGCCCAGGTCAGGCACTGCCCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221404_7221431del , CM000679.2:g.7221404_7221431del	GRCh38
NC_000017.10:g.7124723_7124750del , CM000679.1:g.7124723_7124750del	GRCh37
NC_000017.9:g.7065447_7065474del	NCBI36
NG_007975.1:g.6571_6598del
NG_008391.2:g.3622_3649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-134_478-107del MANE Select	ENSP00000349297.5:n.478-134_478-107del
ENST00000322910.9:c.*433-134_*433-107del	ENSP00000325395.5:n.*433-134_*433-107del
ENST00000350303.9:c.412-134_412-107del	ENSP00000344152.5:n.412-134_412-107del
ENST00000356839.9:c.478-134_478-107del	ENSP00000349297.5:n.478-134_478-107del
ENST00000543245.6:c.547-134_547-107del	ENSP00000438689.2:n.547-134_547-107del
ENST00000577191.5:n.555-134_555-107del
ENST00000577433.5:n.686-134_686-107del
ENST00000577857.5:n.294-134_294-107del
ENST00000579286.5:n.659-134_659-107del
ENST00000579886.2:c.316-134_316-107del	ENSP00000463246.1:n.316-134_316-107del
ENST00000580365.1:n.209-134_209-107del
ENST00000581378.5:c.177-115_177-88del
ENST00000581562.5:n.524+346_524+373del
ENST00000582166.1:n.459-134_459-107del
ENST00000583312.5:c.478-134_478-107del	ENSP00000467920.1:n.478-134_478-107del
ENST00000583760.1:n.126_153del
NM_000018.3:c.478-134_478-107del	NP_000009.1:n.478-134_478-107del
NM_001033859.2:c.412-134_412-107del	NP_001029031.1:n.412-134_412-107del
NM_001270447.1:c.547-134_547-107del	NP_001257376.1:n.547-134_547-107del
NM_001270448.1:c.250-134_250-107del	NP_001257377.1:n.250-134_250-107del
XM_006721516.2:c.478-134_478-107del	XP_006721579.2:n.478-134_478-107del
XM_011523829.1:c.478-134_478-107del	XP_011522131.1:n.478-134_478-107del
XM_011523830.1:c.478-134_478-107del	XP_011522132.1:n.478-134_478-107del
XR_934021.1:n.585-134_585-107del
XR_934022.1:n.585-134_585-107del
XR_934023.1:n.585-134_585-107del
XM_006721516.3:c.478-134_478-107del	XP_006721579.2:n.478-134_478-107del
XM_011523829.2:c.478-134_478-107del	XP_011522131.1:n.478-134_478-107del
XM_011523830.2:c.478-134_478-107del	XP_011522132.1:n.478-134_478-107del
XM_024450741.1:c.478-134_478-107del	XP_024306509.1:n.478-134_478-107del
XR_934021.2:n.537-134_537-107del
XR_934022.2:n.537-134_537-107del
XR_934023.2:n.537-134_537-107del
NM_000018.4:c.478-134_478-107del MANE Select	NP_000009.1:n.478-134_478-107del
NM_001033859.3:c.412-134_412-107del	NP_001029031.1:n.412-134_412-107del
NM_001270447.2:c.547-134_547-107del	NP_001257376.1:n.547-134_547-107del
NM_001270448.2:c.250-134_250-107del	NP_001257377.1:n.250-134_250-107del