Canonical Allele Identifier: CA2635781069

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221429-AGGTCAGGAACTGCCCTAGGTCAGGAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221430_7221456del , CM000679.2:g.7221430_7221456del	GRCh38
NC_000017.10:g.7124749_7124775del , CM000679.1:g.7124749_7124775del	GRCh37
NC_000017.9:g.7065473_7065499del	NCBI36
NG_007975.1:g.6597_6623del
NG_008391.2:g.3595_3621del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-108_478-82del MANE Select	ENSP00000349297.5:n.478-108_478-82del
ENST00000322910.9:c.*433-108_*433-82del	ENSP00000325395.5:n.*433-108_*433-82del
ENST00000350303.9:c.412-108_412-82del	ENSP00000344152.5:n.412-108_412-82del
ENST00000356839.9:c.478-108_478-82del	ENSP00000349297.5:n.478-108_478-82del
ENST00000543245.6:c.547-108_547-82del	ENSP00000438689.2:n.547-108_547-82del
ENST00000577191.5:n.555-108_555-82del
ENST00000577433.5:n.686-108_686-82del
ENST00000577857.5:n.294-108_294-82del
ENST00000579286.5:n.659-108_659-82del
ENST00000579886.2:c.316-108_316-82del	ENSP00000463246.1:n.316-108_316-82del
ENST00000580365.1:n.209-108_209-82del
ENST00000581378.5:c.177-89_177-63del
ENST00000581562.5:n.524+372_524+398del
ENST00000582166.1:n.459-108_459-82del
ENST00000583312.5:c.478-108_478-82del	ENSP00000467920.1:n.478-108_478-82del
ENST00000583760.1:n.152_178del
NM_000018.3:c.478-108_478-82del	NP_000009.1:n.478-108_478-82del
NM_001033859.2:c.412-108_412-82del	NP_001029031.1:n.412-108_412-82del
NM_001270447.1:c.547-108_547-82del	NP_001257376.1:n.547-108_547-82del
NM_001270448.1:c.250-108_250-82del	NP_001257377.1:n.250-108_250-82del
XM_006721516.2:c.478-108_478-82del	XP_006721579.2:n.478-108_478-82del
XM_011523829.1:c.478-108_478-82del	XP_011522131.1:n.478-108_478-82del
XM_011523830.1:c.478-108_478-82del	XP_011522132.1:n.478-108_478-82del
XR_934021.1:n.585-108_585-82del
XR_934022.1:n.585-108_585-82del
XR_934023.1:n.585-108_585-82del
XM_006721516.3:c.478-108_478-82del	XP_006721579.2:n.478-108_478-82del
XM_011523829.2:c.478-108_478-82del	XP_011522131.1:n.478-108_478-82del
XM_011523830.2:c.478-108_478-82del	XP_011522132.1:n.478-108_478-82del
XM_024450741.1:c.478-108_478-82del	XP_024306509.1:n.478-108_478-82del
XR_934021.2:n.537-108_537-82del
XR_934022.2:n.537-108_537-82del
XR_934023.2:n.537-108_537-82del
NM_000018.4:c.478-108_478-82del MANE Select	NP_000009.1:n.478-108_478-82del
NM_001033859.3:c.412-108_412-82del	NP_001029031.1:n.412-108_412-82del
NM_001270447.2:c.547-108_547-82del	NP_001257376.1:n.547-108_547-82del
NM_001270448.2:c.250-108_250-82del	NP_001257377.1:n.250-108_250-82del