Canonical Allele Identifier: CA624693635

Gene: ACADVL

Linked Data

• dbSNP Id: rs1416225920
• gnomAD v2: 17-7124755-GAACTGCCCTAGGTCAGGA-G
• gnomAD v3: 17-7221436-GAACTGCCCTAGGTCAGGA-G
• gnomAD v4: 17-7221436-GAACTGCCCTAGGTCAGGA-G
• MyVariant Identifiers: chr17:g.7124756_7124773del (hg19) ; chr17:g.7221437_7221454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221438_7221455del , CM000679.2:g.7221438_7221455del	GRCh38
NC_000017.10:g.7124757_7124774del , CM000679.1:g.7124757_7124774del	GRCh37
NC_000017.9:g.7065481_7065498del	NCBI36
NG_007975.1:g.6605_6622del
NG_008391.2:g.3597_3614del

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.478-100_478-83del MANE Select	ENSP00000349297.5:n.478-100_478-83del
ENST00000322910.9:c.*433-100_*433-83del	ENSP00000325395.5:n.*433-100_*433-83del
ENST00000350303.9:c.412-100_412-83del	ENSP00000344152.5:n.412-100_412-83del
ENST00000356839.9:c.478-100_478-83del	ENSP00000349297.5:n.478-100_478-83del
ENST00000543245.6:c.547-100_547-83del	ENSP00000438689.2:n.547-100_547-83del
ENST00000577191.5:n.555-100_555-83del
ENST00000577433.5:n.686-100_686-83del
ENST00000577857.5:n.294-100_294-83del
ENST00000579286.5:n.659-100_659-83del
ENST00000579886.2:c.316-100_316-83del	ENSP00000463246.1:n.316-100_316-83del
ENST00000580365.1:n.209-100_209-83del
ENST00000581378.5:c.177-81_177-64del
ENST00000581562.5:n.524+380_524+397del
ENST00000582166.1:n.459-100_459-83del
ENST00000583312.5:c.478-100_478-83del	ENSP00000467920.1:n.478-100_478-83del
ENST00000583760.1:n.160_177del
NM_000018.3:c.478-100_478-83del	NP_000009.1:n.478-100_478-83del
NM_001033859.2:c.412-100_412-83del	NP_001029031.1:n.412-100_412-83del
NM_001270447.1:c.547-100_547-83del	NP_001257376.1:n.547-100_547-83del
NM_001270448.1:c.250-100_250-83del	NP_001257377.1:n.250-100_250-83del
XM_006721516.2:c.478-100_478-83del	XP_006721579.2:n.478-100_478-83del
XM_011523829.1:c.478-100_478-83del	XP_011522131.1:n.478-100_478-83del
XM_011523830.1:c.478-100_478-83del	XP_011522132.1:n.478-100_478-83del
XR_934021.1:n.585-100_585-83del
XR_934022.1:n.585-100_585-83del
XR_934023.1:n.585-100_585-83del
XM_006721516.3:c.478-100_478-83del	XP_006721579.2:n.478-100_478-83del
XM_011523829.2:c.478-100_478-83del	XP_011522131.1:n.478-100_478-83del
XM_011523830.2:c.478-100_478-83del	XP_011522132.1:n.478-100_478-83del
XM_024450741.1:c.478-100_478-83del	XP_024306509.1:n.478-100_478-83del
XR_934021.2:n.537-100_537-83del
XR_934022.2:n.537-100_537-83del
XR_934023.2:n.537-100_537-83del
NM_000018.4:c.478-100_478-83del MANE Select	NP_000009.1:n.478-100_478-83del
NM_001033859.3:c.412-100_412-83del	NP_001029031.1:n.412-100_412-83del
NM_001270447.2:c.547-100_547-83del	NP_001257376.1:n.547-100_547-83del
NM_001270448.2:c.250-100_250-83del	NP_001257377.1:n.250-100_250-83del