Canonical Allele Identifier: CA287435885

Gene: ACADVL

Linked Data

• dbSNP Id: rs912039483
• gnomAD v3: 17-7221341-TAAGA-T
• gnomAD v4: 17-7221341-TAAGA-T
• MyVariant Identifiers: chr17:g.7124661_7124664del (hg19) ; chr17:g.7221342_7221345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221342_7221345del , CM000679.2:g.7221342_7221345del	GRCh38
NC_000017.10:g.7124661_7124664del , CM000679.1:g.7124661_7124664del	GRCh37
NC_000017.9:g.7065385_7065388del	NCBI36
NG_007975.1:g.6509_6512del
NG_008391.2:g.3706_3709del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-196_478-193del MANE Select	ENSP00000349297.5:n.478-196_478-193del
ENST00000322910.9:c.*433-196_*433-193del	ENSP00000325395.5:n.*433-196_*433-193del
ENST00000350303.9:c.412-196_412-193del	ENSP00000344152.5:n.412-196_412-193del
ENST00000356839.9:c.478-196_478-193del	ENSP00000349297.5:n.478-196_478-193del
ENST00000543245.6:c.547-196_547-193del	ENSP00000438689.2:n.547-196_547-193del
ENST00000577191.5:n.555-196_555-193del
ENST00000577433.5:n.686-196_686-193del
ENST00000577857.5:n.294-196_294-193del
ENST00000579286.5:n.659-196_659-193del
ENST00000579886.2:c.316-196_316-193del	ENSP00000463246.1:n.316-196_316-193del
ENST00000580365.1:n.209-196_209-193del
ENST00000581378.5:c.177-177_177-174del
ENST00000581562.5:n.524+284_524+287del
ENST00000582166.1:n.459-196_459-193del
ENST00000583312.5:c.478-196_478-193del	ENSP00000467920.1:n.478-196_478-193del
ENST00000583760.1:n.64_67del
NM_000018.3:c.478-196_478-193del	NP_000009.1:n.478-196_478-193del
NM_001033859.2:c.412-196_412-193del	NP_001029031.1:n.412-196_412-193del
NM_001270447.1:c.547-196_547-193del	NP_001257376.1:n.547-196_547-193del
NM_001270448.1:c.250-196_250-193del	NP_001257377.1:n.250-196_250-193del
XM_006721516.2:c.478-196_478-193del	XP_006721579.2:n.478-196_478-193del
XM_011523829.1:c.478-196_478-193del	XP_011522131.1:n.478-196_478-193del
XM_011523830.1:c.478-196_478-193del	XP_011522132.1:n.478-196_478-193del
XR_934021.1:n.585-196_585-193del
XR_934022.1:n.585-196_585-193del
XR_934023.1:n.585-196_585-193del
XM_006721516.3:c.478-196_478-193del	XP_006721579.2:n.478-196_478-193del
XM_011523829.2:c.478-196_478-193del	XP_011522131.1:n.478-196_478-193del
XM_011523830.2:c.478-196_478-193del	XP_011522132.1:n.478-196_478-193del
XM_024450741.1:c.478-196_478-193del	XP_024306509.1:n.478-196_478-193del
XR_934021.2:n.537-196_537-193del
XR_934022.2:n.537-196_537-193del
XR_934023.2:n.537-196_537-193del
NM_000018.4:c.478-196_478-193del MANE Select	NP_000009.1:n.478-196_478-193del
NM_001033859.3:c.412-196_412-193del	NP_001029031.1:n.412-196_412-193del
NM_001270447.2:c.547-196_547-193del	NP_001257376.1:n.547-196_547-193del
NM_001270448.2:c.250-196_250-193del	NP_001257377.1:n.250-196_250-193del