Canonical Allele Identifier: CA981152612

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071215230
• gnomAD v3: 17-7221434-AGGAACTGCCCTAGGTCAG-A
• gnomAD v4: 17-7221434-AGGAACTGCCCTAGGTCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221436_7221453del , CM000679.2:g.7221436_7221453del	GRCh38
NC_000017.10:g.7124755_7124772del , CM000679.1:g.7124755_7124772del	GRCh37
NC_000017.9:g.7065479_7065496del	NCBI36
NG_007975.1:g.6603_6620del
NG_008391.2:g.3599_3616del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-102_478-85del MANE Select	ENSP00000349297.5:n.478-102_478-85del
ENST00000322910.9:c.*433-102_*433-85del	ENSP00000325395.5:n.*433-102_*433-85del
ENST00000350303.9:c.412-102_412-85del	ENSP00000344152.5:n.412-102_412-85del
ENST00000356839.9:c.478-102_478-85del	ENSP00000349297.5:n.478-102_478-85del
ENST00000543245.6:c.547-102_547-85del	ENSP00000438689.2:n.547-102_547-85del
ENST00000577191.5:n.555-102_555-85del
ENST00000577433.5:n.686-102_686-85del
ENST00000577857.5:n.294-102_294-85del
ENST00000579286.5:n.659-102_659-85del
ENST00000579886.2:c.316-102_316-85del	ENSP00000463246.1:n.316-102_316-85del
ENST00000580365.1:n.209-102_209-85del
ENST00000581378.5:c.177-83_177-66del
ENST00000581562.5:n.524+378_524+395del
ENST00000582166.1:n.459-102_459-85del
ENST00000583312.5:c.478-102_478-85del	ENSP00000467920.1:n.478-102_478-85del
ENST00000583760.1:n.158_175del
NM_000018.3:c.478-102_478-85del	NP_000009.1:n.478-102_478-85del
NM_001033859.2:c.412-102_412-85del	NP_001029031.1:n.412-102_412-85del
NM_001270447.1:c.547-102_547-85del	NP_001257376.1:n.547-102_547-85del
NM_001270448.1:c.250-102_250-85del	NP_001257377.1:n.250-102_250-85del
XM_006721516.2:c.478-102_478-85del	XP_006721579.2:n.478-102_478-85del
XM_011523829.1:c.478-102_478-85del	XP_011522131.1:n.478-102_478-85del
XM_011523830.1:c.478-102_478-85del	XP_011522132.1:n.478-102_478-85del
XR_934021.1:n.585-102_585-85del
XR_934022.1:n.585-102_585-85del
XR_934023.1:n.585-102_585-85del
XM_006721516.3:c.478-102_478-85del	XP_006721579.2:n.478-102_478-85del
XM_011523829.2:c.478-102_478-85del	XP_011522131.1:n.478-102_478-85del
XM_011523830.2:c.478-102_478-85del	XP_011522132.1:n.478-102_478-85del
XM_024450741.1:c.478-102_478-85del	XP_024306509.1:n.478-102_478-85del
XR_934021.2:n.537-102_537-85del
XR_934022.2:n.537-102_537-85del
XR_934023.2:n.537-102_537-85del
NM_000018.4:c.478-102_478-85del MANE Select	NP_000009.1:n.478-102_478-85del
NM_001033859.3:c.412-102_412-85del	NP_001029031.1:n.412-102_412-85del
NM_001270447.2:c.547-102_547-85del	NP_001257376.1:n.547-102_547-85del
NM_001270448.2:c.250-102_250-85del	NP_001257377.1:n.250-102_250-85del